TCS1
MCID: TRC072
MIFTS: 66

Treacher Collins Syndrome 1 (TCS1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Treacher Collins Syndrome 1

MalaCards integrated aliases for Treacher Collins Syndrome 1:

Name: Treacher Collins Syndrome 1 56 73 29 13 6
Treacher Collins Syndrome 56 12 74 24 52 25 73 36 29 54 6 15 39
Mandibulofacial Dysostosis 56 12 24 52 25 58 73 43 32
Treacher Collins-Franceschetti Syndrome 56 24 52 25 73
Tcof 56 52 73
Mfd1 56 52 73
Tcs 56 52 73
Franceschetti-Klein Syndrome 58 71
Tcs1 56 73
Mandibulofacial Dysostosis Without Limb Anomalies 58
Bilateral and Symmetric Oto-Mandibular Dysplasia 58
Treacher Collins-Franceschetti Syndrome; Tcof 56
Franceschetti-Zwahlen-Klein Syndrome 25
Treacher Collins Syndrome, Type 1 39
Mandibulofacial Dysostosis; Mfd1 56
Treacher Collins Syndrome; Tcs 56
Zygoauromandibular Dysplasia 25
Treacher-Collins Syndrome 58
Franceschetti Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
treacher-collins syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
treacher collins syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance While the penetrance of pathogenic variants associated with tcs is high, reduced penetrance in tcof1 has also been reported [dixon et al 2004, vincent et al 2016] and polr1d [dauwerse et al 2011, vincent et al 2016].

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Treacher Collins Syndrome 1

Genetics Home Reference : 25 Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.

MalaCards based summary : Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis, cincinnati type and cleft palate, isolated. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and RNA polymerase. The drugs Antibodies, Monoclonal and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and skeletal dysplasia

NIH Rare Diseases : 52 Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia ). Other features may include cleft palate , eye abnormalities, and hearing loss . TCS may be caused by mutations in the TCOF1 , POLR1C , or POLR1D genes . When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.

OMIM : 56 Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). (154500)

KEGG : 36 Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

UniProtKB/Swiss-Prot : 73 Treacher Collins syndrome 1: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Wikipedia : 74 Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes,... more...

GeneReviews: NBK1532

Related Diseases for Treacher Collins Syndrome 1

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2

Diseases related to Treacher Collins Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 822, show less)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, cincinnati type 33.3 WDR43 POLR1D POLR1A KBTBD8
2 cleft palate, isolated 31.8 WDR43 TCOF1 POLR1D POLR1C NOL11 EFTUD2
3 coloboma of macula 31.6 TCOF1 POLR1D EFTUD2 CFAP47
4 mandibulofacial dysostosis, guion-almeida type 31.6 SF3B4 POLR1D EFTUD2
5 choanal atresia, posterior 31.3 EFTUD2 CFAP47
6 hemifacial microsomia 31.3 TCOF1 EFTUD2
7 dysostosis 31.1 TCOF1 SF3B4 POLR1A EFTUD2 CFAP47
8 acrofacial dysostosis 30.8 SF3B4 POLR1D POLR1A EFTUD2 CFAP47
9 orofacial cleft 30.7 TCOF1 RPL5 RPL35A RPL11
10 macrocytic anemia 30.6 RPS19 RPS14 RPL5 RPL35A RPL11
11 diamond-blackfan anemia 29.9 UTP4 TCOF1 SBDS RPS19 RPS14 RPL5
12 mandibulofacial dysostosis with alopecia 13.0
13 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
14 split-foot deformity with mandibulofacial dysostosis 12.7
15 mandibulofacial dysostosis with macroblepharon and macrostomia 12.6
16 branchial arch syndrome, x-linked 12.5
17 mandibulofacial dysostosis syndrome, bauru type 12.5
18 mandibulofacial dysostosis with ptosis, autosomal dominant 12.5
19 mandibulofacial dysostosis with mental retardation 12.4
20 obsolete: mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome 12.4
21 obsolete: mandibulofacial dysostosis-lymphedema syndrome 12.4
22 acrofacial dysostosis 1, nager type 12.3
23 transcobalamin ii deficiency 12.0
24 oculoauricular syndrome 11.9
25 acrofacial dysostosis, catania type 11.9
26 acrofacial dysostosis syndrome of rodriguez 11.8
27 microtia-anotia 11.5
28 burn-mckeown syndrome 11.5
29 imperforate oropharynx-costo vetebral anomalies 11.4
30 transcobalamin deficiency 11.4
31 uv-sensitive syndrome 11.3
32 tethered spinal cord syndrome 11.3
33 treacher collins syndrome 3 11.2
34 treacher collins syndrome 2 11.2
35 uv-sensitive syndrome 1 11.2
36 cerebrooculofacioskeletal syndrome 4 11.2
37 uv-sensitive syndrome 2 11.2
38 uv-sensitive syndrome 3 11.2
39 microscopic polyangiitis 11.2
40 postaxial acrofacial dysostosis 11.0
41 microtia 10.8
42 sleep apnea 10.7
43 dextrocardia 10.6
44 polyhydramnios 10.5
45 pierre robin syndrome 10.5
46 hyperparathyroidism 10.5
47 weyers acrofacial dysostosis 10.5
48 hypomandibular faciocranial dysostosis 10.5
49 acrofacial dysostosis, palagonia type 10.5
50 acrodysostosis 10.5
51 acrodysostosis with multiple hormone resistance 10.5
52 acrofacial dysostosis, kennedy-teebi type 10.5
53 microcephaly 10.5
54 craniofacial microsomia 10.5
55 isolated pierre robin sequence 10.5
56 tetralogy of fallot 10.4
57 tracheoesophageal fistula with or without esophageal atresia 10.4
58 cryptorchidism, unilateral or bilateral 10.4
59 branchiootic syndrome 1 10.4
60 lissencephaly 1 10.4
61 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
62 diamond-blackfan anemia 1 10.4 RPS19 RPL5
63 hypertelorism 10.4
64 johnson neuroectodermal syndrome 10.4
65 apnea, obstructive sleep 10.4
66 ear malformation 10.4
67 macrostomia, isolated 10.4
68 tooth agenesis 10.4
69 cleft lip 10.4
70 leukodystrophy, hypomyelinating, 11 10.4 POLR1C POLR1A
71 primary hyperparathyroidism 10.4
72 adenoma 10.4
73 bowen-conradi syndrome 10.4 UTP4 RPS19 RPL11 NOL11
74 thyroid carcinoma 10.3
75 parathyroid adenoma 10.3
76 ventricular septal defect 10.3
77 heart septal defect 10.3
78 cherubism 10.3
79 palatopharyngeal incompetence 10.3
80 retinal detachment 10.3
81 diastrophic dysplasia 10.3
82 abruzzo-erickson syndrome 10.3
83 alacrima, achalasia, and mental retardation syndrome 10.3
84 bone resorption disease 10.3
85 ectodermal dysplasia 10.3
86 osteomyelitis 10.3
87 congenital hypoplastic anemia 10.3 RPS19 RPS14 RPL5 RPL35A RPL11
88 amyloidosis 10.3
89 neutropenia 10.2
90 pyelonephritis 10.2
91 glioma 10.2
92 glial tumor 10.2
93 acute myocardial infarction 10.2
94 breast cancer 10.2
95 myeloma, multiple 10.2
96 osteogenic sarcoma 10.2
97 glioblastoma multiforme 10.2
98 graft-versus-host disease 10.2
99 secondary hyperparathyroidism 10.2
100 acute cystitis 10.2
101 cerebrocostomandibular syndrome 10.2
102 frontonasal dysplasia 1 10.2
103 lacrimal duct defect 10.2
104 radioulnar synostosis 10.2
105 teeth, supernumerary 10.2
106 telecanthus 10.2
107 c syndrome 10.2
108 duodenal atresia 10.2
109 meier-gorlin syndrome 1 10.2
110 tibial hemimelia 10.2
111 diamond-blackfan anemia 10 10.2
112 alkuraya-kucinskas syndrome 10.2
113 distal arthrogryposis 10.2
114 isolated ectopia lentis 10.2
115 hypospadias 10.2
116 respiratory failure 10.2
117 dysgammaglobulinemia 10.2
118 synostosis 10.2
119 cutis laxa 10.2
120 thyroid malformation 10.2
121 hard palate cancer 10.2
122 dacryoadenitis 10.2
123 chronic dacryocystitis 10.2
124 dacryocystitis 10.2
125 hypermobile ehlers-danlos syndrome 10.2
126 mondini dysplasia 10.2
127 plagiocephaly 10.2
128 cerebral atrophy 10.2
129 hemimelia 10.2
130 congenital amyoplasia 10.2
131 neurofibromatosis, type ii 10.2
132 angelman syndrome 10.2
133 anisocoria 10.2
134 autoimmune disease 10.2
135 neurofibromatosis, type iv, of riccardi 10.2
136 schizophrenia 10.2
137 strabismus 10.2
138 chromosome 2q35 duplication syndrome 10.2
139 down syndrome 10.2
140 charge syndrome 10.2
141 fryns microphthalmia syndrome 10.2
142 astigmatism 10.2
143 polydactyly 10.2
144 diamond-blackfan anemia 15 with mandibulofacial dysostosis 10.2
145 spinocerebellar ataxia 36 10.2
146 deficiency anemia 10.2
147 paraganglioma 10.2
148 scoliosis 10.2
149 ptosis 10.2
150 inguinal hernia 10.2
151 dermatomyositis 10.2
152 suppression amblyopia 10.2
153 amblyopia 10.2
154 klippel-feil syndrome 10.2
155 esophageal atresia 10.2
156 hydrocephalus 10.2
157 cholesteatoma of middle ear 10.2
158 megacolon 10.2
159 regular astigmatism 10.2
160 otosclerosis 10.2
161 anisometropia 10.2
162 congenital toxoplasmosis 10.2
163 communicating hydrocephalus 10.2
164 ankylosis 10.2
165 craniosynostosis 10.2
166 intestinal pseudo-obstruction 10.2
167 middle ear disease 10.2
168 neuroblastoma 10.2
169 cataract 10.2
170 lung disease 10.2
171 learning disability 10.2
172 achalasia 10.2
173 speech disorder 10.2
174 mechanical strabismus 10.2
175 bacterial meningitis 10.2
176 refractive error 10.2
177 alopecia 10.2
178 hydrocele 10.2
179 toxoplasmosis 10.2
180 aneurysm of sinus of valsalva 10.2
181 chronic intestinal pseudoobstruction 10.2
182 coloboma of iris 10.2
183 exencephaly 10.2
184 pectus carinatum 10.2
185 aneurysm 10.2
186 dysphagia 10.2
187 cleft lip/palate 10.2
188 penile agenesis 10.2
189 autosomal anomaly 10.2
190 red cell aplasia 10.2
191 hyperlipoproteinemia, type iii 10.1
192 coronary artery anomaly 10.1
193 cartilage-hair hypoplasia 10.1 UTP4 SBDS RPS19 RPS14 RPL5 RPL35A
194 shwachman-diamond syndrome 1 10.1 UTP4 SBDS RPS19 RPS14 RPL5 RPL35A
195 dyskeratosis congenita 10.1 UTP4 SBDS RPS19 RPS14 RPL5 RPL35A
196 fibrosarcoma 10.1
197 liver cirrhosis 10.1
198 vesicoureteral reflux 1 10.1
199 lymphoma 10.1
200 rapidly involuting congenital hemangioma 10.1
201 amegakaryocytic thrombocytopenia, congenital 10.1 SBDS RPS19
202 hair whorl 10.1
203 lung cancer 10.1
204 inflammatory bowel disease 10.1
205 hydronephrosis 10.1
206 coronary stenosis 10.1
207 arteries, anomalies of 10.1
208 ovarian cancer 10.1
209 hypogonadotropic hypogonadism 15 with or without anosmia 10.1
210 goiter 10.1
211 liver disease 10.1
212 pachyonychia congenita 3 10.0
213 kidney disease 10.0
214 acute graft versus host disease 10.0
215 alzheimer disease 10.0
216 meckel diverticulum 10.0
217 graves disease 1 10.0
218 leukemia, acute myeloid 10.0
219 meningioma, radiation-induced 10.0
220 meningioma, familial 10.0
221 angina pectoris 10.0
222 bone disease 10.0
223 spinal meningioma 10.0
224 hypothyroidism 10.0
225 secretory meningioma 10.0
226 lymphoplasmacyte-rich meningioma 10.0
227 acute pyelonephritis 10.0
228 hyperthyroidism 10.0
229 tremor 10.0
230 hepatocellular carcinoma 10.0
231 lymphoma, hodgkin, classic 10.0
232 cervical cancer 10.0
233 portal hypertension 10.0
234 adenocarcinoma 10.0
235 ischemia 10.0
236 essential tremor 10.0
237 urinary tract obstruction 10.0
238 thyroiditis 10.0
239 myeloid leukemia 10.0
240 crohn's disease 10.0
241 progressive familial heart block, type ia 9.9
242 small cell cancer of the lung 9.9
243 triiodothyronine receptor auxiliary protein 9.9
244 lymphoma, non-hodgkin, familial 9.9
245 pulmonary hypertension, primary, 3 9.9
246 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
247 left bundle branch hemiblock 9.9
248 lymphocytic leukemia 9.9
249 chagas disease 9.9
250 graves' disease 9.9
251 acute kidney tubular necrosis 9.9
252 biliary atresia 9.9
253 hemangioma 9.9
254 acute kidney failure 9.9
255 astrocytoma 9.9
256 movement disease 9.9
257 ureteral obstruction 9.9
258 severe combined immunodeficiency 9.9
259 intermediate coronary syndrome 9.9
260 hepatopulmonary syndrome 9.9
261 pulmonary embolism 9.9
262 soft tissue sarcoma 9.9
263 back pain 9.9
264 hypoxia 9.9
265 traumatic brain injury 9.9
266 differentiated thyroid carcinoma 9.9
267 colorectal cancer 9.9
268 thyroid carcinoma, familial medullary 9.9
269 migraine with or without aura 1 9.9
270 osteoporosis 9.9
271 prostate cancer 9.9
272 sarcoidosis 1 9.9
273 thrombophilia due to thrombin defect 9.9
274 varicose veins 9.9
275 chondrosarcoma 9.9
276 sarcoma, synovial 9.9
277 coronary heart disease 1 9.9
278 bone mineral density quantitative trait locus 8 9.9
279 bone mineral density quantitative trait locus 15 9.9
280 myelodysplastic syndrome 9.9
281 helix syndrome 9.9
282 mantle cell lymphoma 9.9
283 aphasia 9.9
284 acute leukemia 9.9
285 telangiectasis 9.9
286 dilated cardiomyopathy 9.9
287 duodenal ulcer 9.9
288 melanoma 9.9
289 orchitis 9.9
290 vaccinia 9.9
291 liposarcoma 9.9
292 thyroid gland medullary carcinoma 9.9
293 myocarditis 9.9
294 appendicitis 9.9
295 osteoarthritis 9.9
296 chickenpox 9.9
297 in situ carcinoma 9.9
298 fasciitis 9.9
299 necrotizing fasciitis 9.9
300 47,xyy 9.9
301 48,xyyy 9.9
302 chronic graft versus host disease 9.9
303 prosthetic joint infection 9.9
304 raynaud phenomenon 9.9
305 multiple endocrine neoplasia 9.9
306 brain injury 9.9
307 esophageal cancer 9.8
308 renal cell carcinoma, nonpapillary 9.8
309 leukemia, chronic lymphocytic 9.8
310 systemic lupus erythematosus 9.8
311 rheumatoid arthritis 9.8
312 neural tube defects 9.8
313 thyroid cancer, nonmedullary, 1 9.8
314 pancreatic cancer 9.8
315 myocardial infarction 9.8
316 leukemia, acute lymphoblastic 9.8
317 immunodeficiency 60 9.8
318 ductal carcinoma in situ 9.8
319 crohn's colitis 9.8
320 myelomeningocele 9.8
321 thrombosis 9.8
322 spina bifida occulta 9.8
323 mucositis 9.8
324 osteonecrosis 9.8
325 bacterial infectious disease 9.8
326 osteomalacia 9.8
327 protein-losing enteropathy 9.8
328 hemiplegia 9.8
329 sarcoma 9.8
330 hemopericardium 9.8
331 pericardial effusion 9.8
332 nephrotic syndrome 9.8
333 dementia 9.8
334 obstructive jaundice 9.8
335 renovascular hypertension 9.8
336 vascular disease 9.8
337 viral hepatitis 9.8
338 benign mesothelioma 9.8
339 bilirubin metabolic disorder 9.8
340 testicular cancer 9.8
341 papillary carcinoma 9.8
342 histiocytosis 9.8
343 skin carcinoma 9.8
344 aortic aneurysm 9.8
345 insulinoma 9.8
346 thyroid gland papillary carcinoma 9.8
347 gastritis 9.8
348 spindle cell sarcoma 9.8
349 erdheim-chester disease 9.8
350 congestive heart failure 9.8
351 cerebrovascular disease 9.8
352 b-cell lymphoma 9.8
353 active peptic ulcer disease 9.8
354 chronic kidney disease 9.8
355 herpes simplex 9.8
356 skin melanoma 9.8
357 exophthalmos 9.8
358 fatty liver disease 9.8
359 stomatitis 9.8
360 toxocariasis 9.8
361 horseshoe kidney 9.8
362 oncogenic osteomalacia 9.8
363 depression 9.8
364 encephalopathy 9.8
365 amyotrophic lateral sclerosis 1 9.7
366 creutzfeldt-jakob disease 9.7
367 multiple endocrine neoplasia, type i 9.7
368 attention deficit-hyperactivity disorder 9.7
369 endosteal hyperostosis, autosomal dominant 9.7
370 hyperparathyroidism 1 9.7
371 multiple system atrophy 1 9.7
372 obsessive-compulsive disorder 9.7
373 parkinson disease, late-onset 9.7
374 schistosoma mansoni infection, susceptibility/ 9.7
375 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
376 hemangiopericytoma, malignant 9.7
377 proteasome-associated autoinflammatory syndrome 1 9.7
378 ocular motor apraxia 9.7
379 frontotemporal dementia 9.7
380 suppression of tumorigenicity 12 9.7
381 langerhans cell histiocytosis 9.7
382 pulmonary disease, chronic obstructive 9.7
383 nasopharyngeal carcinoma 9.7
384 leukemia, chronic myeloid 9.7
385 parathyroid carcinoma 9.7
386 major depressive disorder 9.7
387 fatty liver disease, nonalcoholic 1 9.7
388 melioidosis 9.7
389 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.7
390 congenital hypothyroidism 9.7
391 hypophosphatemia 9.7
392 anaplastic large cell lymphoma 9.7
393 diffuse large b-cell lymphoma 9.7
394 limb ischemia 9.7
395 oral squamous cell carcinoma 9.7
396 fibroma 9.7
397 brain glioma 9.7
398 colitis 9.7
399 gallbladder disease 9.7
400 chronic pyelonephritis 9.7
401 bubonic plague 9.7
402 gastric ulcer 9.7
403 hypoparathyroidism 9.7
404 esophageal varix 9.7
405 parathyroid gland disease 9.7
406 tetanus 9.7
407 lymphocytic choriomeningitis 9.7
408 alcoholic hepatitis 9.7
409 renal osteodystrophy 9.7
410 brain cancer 9.7
411 nodular goiter 9.7
412 megaloblastic anemia 9.7
413 cardiac sarcoidosis 9.7
414 hepatic infarction 9.7
415 polyneuropathy 9.7
416 schistosomiasis 9.7
417 cholera 9.7
418 mental depression 9.7
419 breast fibroadenoma 9.7
420 benign breast phyllodes tumor 9.7
421 squamous cell carcinoma 9.7
422 calcinosis 9.7
423 cholecystitis 9.7
424 giant cell tumor 9.7
425 neuroma 9.7
426 enthesopathy 9.7
427 sweat gland cancer 9.7
428 myeloproliferative neoplasm 9.7
429 focal epilepsy 9.7
430 lateral sclerosis 9.7
431 colon adenocarcinoma 9.7
432 skin atrophy 9.7
433 substance abuse 9.7
434 mucinous adenocarcinoma 9.7
435 grade iii astrocytoma 9.7
436 lipid metabolism disorder 9.7
437 rhabdomyosarcoma 9.7
438 teratoma 9.7
439 embryonal carcinoma 9.7
440 temporal lobe epilepsy 9.7
441 bone inflammation disease 9.7
442 extraosseous osteosarcoma 9.7
443 mammary paget's disease 9.7
444 breast adenocarcinoma 9.7
445 breast disease 9.7
446 plague 9.7
447 cellulitis 9.7
448 appendix adenocarcinoma 9.7
449 gastric adenocarcinoma 9.7
450 plasmacytoma 9.7
451 arthropathy 9.7
452 craniopharyngioma 9.7
453 thrombophlebitis 9.7
454 merkel cell carcinoma 9.7
455 cavernous hemangioma 9.7
456 prion disease 9.7
457 anthrax disease 9.7
458 arthritis 9.7
459 ulcerative colitis 9.7
460 vascular dementia 9.7
461 lupus erythematosus 9.7
462 diabetes mellitus 9.7
463 muscular dystrophy 9.7
464 al amyloidosis 9.7
465 cytokine deficiency 9.7
466 glucagonoma 9.7
467 ovarian epithelial cancer 9.7
468 splenomegaly 9.7
469 head injury 9.7
470 syncope 9.7
471 wild type attr amyloidosis 9.7
472 glomerular disease 9.7
473 thrombotic microangiopathy 9.7
474 precursor t-cell acute lymphoblastic leukemia 9.7
475 aortic aneurysm, familial abdominal, 1 9.6
476 alcohol dependence 9.6
477 cerebral amyloid angiopathy, cst3-related 9.6
478 amyloidosis, hereditary, transthyretin-related 9.6
479 atherosclerosis susceptibility 9.6
480 atrial standstill 1 9.6
481 gastroesophageal reflux 9.6
482 bladder cancer 9.6
483 blue rubber bleb nevus 9.6
484 burkitt lymphoma 9.6
485 cardiac conduction defect 9.6
486 erythroleukemia, familial 9.6
487 felty syndrome 9.6
488 diaphragmatic hernia, congenital 9.6
489 hernia, hiatus 9.6
490 hypercholesterolemia, familial, 1 9.6
491 lipomatosis, multiple 9.6
492 medulloblastoma 9.6
493 mesothelioma, malignant 9.6
494 myositis 9.6
495 nephrolithiasis, calcium oxalate 9.6
496 papillomatosis, confluent and reticulated 9.6
497 pheochromocytoma 9.6
498 pneumothorax, primary spontaneous 9.6
499 polykaryocytosis inducer 9.6
500 greig cephalopolysyndactyly syndrome 9.6
501 pelvic organ prolapse 9.6
502 pulmonary fibrosis, idiopathic 9.6
503 scleroderma, familial progressive 9.6
504 thyroid cancer, nonmedullary, 2 9.6
505 suppressor of tumorigenicity 3 9.6
506 ureterocele 9.6
507 long qt syndrome 1 9.6
508 chordoma 9.6
509 hypothyroidism, congenital, nongoitrous, 2 9.6
510 neurodegeneration with brain iron accumulation 1 9.6
511 hemolytic uremic syndrome, atypical 1 9.6
512 hydrocephalus, normal-pressure 9.6
513 familial mediterranean fever 9.6
514 myelofibrosis 9.6
515 osteoid osteoma 9.6
516 periodontitis, chronic 9.6
517 scott syndrome 9.6
518 thymoma, familial 9.6
519 squamous cell carcinoma, head and neck 9.6
520 xeroderma pigmentosum, variant type 9.6
521 dent disease 1 9.6
522 body mass index quantitative trait locus 11 9.6
523 muscular dystrophy, becker type 9.6
524 lowe oculocerebrorenal syndrome 9.6
525 muscular dystrophy, duchenne type 9.6
526 androgen insensitivity, partial 9.6
527 ataxia and polyneuropathy, adult-onset 9.6
528 hyperparathyroidism, primary, caused by water clear cell hyperplasia 9.6
529 brittle bone disorder 9.6
530 sickle cell anemia 9.6
531 body mass index quantitative trait locus 1 9.6
532 creatinine clearance quantitative trait locus 9.6
533 allergic rhinitis 9.6
534 mammographic density 9.6
535 psoriatic arthritis 9.6
536 juvenile myelomonocytic leukemia 9.6
537 endometrial cancer 9.6
538 platelet glycoprotein iv deficiency 9.6
539 inflammatory bowel disease 9 9.6
540 human immunodeficiency virus type 1 9.6
541 lipomyelomeningocele 9.6
542 hyperparathyroidism 3 9.6
543 thrombocytopenia 4 9.6
544 chondrosarcoma, extraskeletal myxoid 9.6
545 major affective disorder 8 9.6
546 major affective disorder 9 9.6
547 inflammatory bowel disease 24 9.6
548 lung cancer susceptibility 3 9.6
549 microvascular complications of diabetes 3 9.6
550 microvascular complications of diabetes 4 9.6
551 microvascular complications of diabetes 6 9.6
552 microvascular complications of diabetes 7 9.6
553 neuroblastoma 2 9.6
554 ectodermal dysplasia-syndactyly syndrome 2 9.6
555 gastric cancer 9.6
556 blood group, cromer system 9.6
557 aspergillosis 9.6
558 barrett esophagus 9.6
559 diarrhea 6 9.6
560 leptin deficiency or dysfunction 9.6
561 cholangiocarcinoma 9.6
562 autoimmune lymphoproliferative syndrome, type v 9.6
563 hydrops, lactic acidosis, and sideroblastic anemia 9.6
564 peripheral vascular disease 9.6
565 chronic diarrhea due to guanylate cyclase 2c overactivity 9.6
566 pulmonary hypertension 9.6
567 invasive aspergillosis 9.6
568 cryptogenic organizing pneumonia 9.6
569 periventricular nodular heterotopia 9.6
570 exanthem 9.6
571 multinodular goiter 9.6
572 severe congenital neutropenia 9.6
573 alternating hemiplegia of childhood 9.6
574 female breast cancer 9.6
575 small cell carcinoma 9.6
576 peripheral t-cell lymphoma 9.6
577 secondary progressive multiple sclerosis 9.6
578 hemidystonia 9.6
579 follicular lymphoma 9.6
580 adrenal gland pheochromocytoma 9.6
581 ameloblastoma 9.6
582 withdrawal disorder 9.6
583 interleukin-7 receptor alpha deficiency 9.6
584 brain meningioma 9.6
585 atrial fibrillation 9.6
586 paroxysmal nocturnal hemoglobinuria 9.6
587 cardiac arrest 9.6
588 ectopic pregnancy 9.6
589 chronic myelomonocytic leukemia 9.6
590 renal hypoplasia 9.6
591 non-alcoholic fatty liver disease 9.6
592 polycystic kidney disease 9.6
593 non-alcoholic steatohepatitis 9.6
594 sensorineural hearing loss 9.6
595 migraine with aura 9.6
596 ileum cancer 9.6
597 pleomorphic lipoma 9.6
598 cholelithiasis 9.6
599 thalassemia 9.6
600 endocarditis 9.6
601 prolymphocytic leukemia 9.6
602 glucose intolerance 9.6
603 amnestic disorder 9.6
604 antisocial personality disorder 9.6
605 discitis 9.6
606 depersonalization disorder 9.6
607 placenta praevia 9.6
608 disseminated intravascular coagulation 9.6
609 arteriovenous malformation 9.6
610 gingival recession 9.6
611 diphtheria 9.6
612 cauda equina syndrome 9.6
613 infant gynecomastia 9.6
614 penile cancer 9.6
615 diabetic angiopathy 9.6
616 lyme disease 9.6
617 choledocholithiasis 9.6
618 splenic sequestration 9.6
619 visual epilepsy 9.6
620 esophagitis 9.6
621 allergic hypersensitivity disease 9.6
622 hemosiderosis 9.6
623 bile reflux 9.6
624 vulva cancer 9.6
625 pancytopenia 9.6
626 bell's palsy 9.6
627 hepatic coma 9.6
628 hemolytic-uremic syndrome 9.6
629 acoustic neuroma 9.6
630 gynecomastia 9.6
631 tolosa-hunt syndrome 9.6
632 enterocele 9.6
633 rectal disease 9.6
634 keratoconjunctivitis sicca 9.6
635 carotid stenosis 9.6
636 vertebrobasilar insufficiency 9.6
637 uveitis 9.6
638 endemic goiter 9.6
639 typhoid fever 9.6
640 neurosarcoidosis 9.6
641 hepatic encephalopathy 9.6
642 cholestasis 9.6
643 patent foramen ovale 9.6
644 familial hypercholesterolemia 9.6
645 amenorrhea 9.6
646 bacteriuria 9.6
647 lymphangioma 9.6
648 disease of mental health 9.6
649 personality disorder 9.6
650 urticaria 9.6
651 alcohol use disorder 9.6
652 rheumatic disease 9.6
653 rheumatic fever 9.6
654 thrombocytopenia 9.6
655 pneumothorax 9.6
656 islet cell tumor 9.6
657 ossifying fibroma 9.6
658 neuroendocrine carcinoma 9.6
659 status epilepticus 9.6
660 epilepsy 9.6
661 leiomyosarcoma 9.6
662 constipation 9.6
663 b cell deficiency 9.6
664 brain sarcoma 9.6
665 hepatitis 9.6
666 spondylolysis 9.6
667 arteriosclerosis 9.6
668 neonatal jaundice 9.6
669 familial nephrotic syndrome 9.6
670 larynx cancer 9.6
671 kidney cancer 9.6
672 struma ovarii 9.6
673 cystic teratoma 9.6
674 transitional cell carcinoma 9.6
675 synovitis 9.6
676 dermatitis 9.6
677 idiopathic interstitial pneumonia 9.6
678 long qt syndrome 9.6
679 acute pancreatitis 9.6
680 glomerulonephritis 9.6
681 newcastle disease 9.6
682 cockayne syndrome 9.6
683 breast ductal carcinoma 9.6
684 malignant glioma 9.6
685 interstitial lung disease 9.6
686 serous cystadenocarcinoma 9.6
687 oligodendroglioma 9.6
688 neurilemmoma 9.6
689 myelitis 9.6
690 complex regional pain syndrome 9.6
691 thymoma 9.6
692 bipolar disorder 9.6
693 angiomyolipoma 9.6
694 mood disorder 9.6
695 mesenchymal cell neoplasm 9.6
696 lateral medullary syndrome 9.6
697 pulmonary fibrosis 9.6
698 pituitary adenoma 9.6
699 acute myocarditis 9.6
700 thyroid gland follicular carcinoma 9.6
701 duodenogastric reflux 9.6
702 pancreatic adenocarcinoma 9.6
703 biliary dyskinesia 9.6
704 ganglioneuroblastoma 9.6
705 syphilis 9.6
706 systemic scleroderma 9.6
707 hyperglycemia 9.6
708 brain stem glioma 9.6
709 myopathy 9.6
710 non-langerhans-cell histiocytosis 9.6
711 hepatitis e 9.6
712 rhinitis 9.6
713 extraosseous chondrosarcoma 9.6
714 bile duct cancer 9.6
715 ependymoblastoma 9.6
716 bronchiolo-alveolar adenocarcinoma 9.6
717 intrahepatic cholangiocarcinoma 9.6
718 thyroid gland disease 9.6
719 chronic inflammatory demyelinating polyradiculoneuropathy 9.6
720 demyelinating polyneuropathy 9.6
721 infertility 9.6
722 hemangioblastoma 9.6
723 heart sarcoma 9.6
724 pulmonary coin lesion 9.6
725 pneumonia 9.6
726 acute t cell leukemia 9.6
727 eye disease 9.6
728 adrenal neuroblastoma 9.6
729 peripheral nervous system disease 9.6
730 hemoglobinuria 9.6
731 myxoid chondrosarcoma 9.6
732 panic disorder 9.6
733 follicular adenoma 9.6
734 central pontine myelinolysis 9.6
735 hypersplenism 9.6
736 connective tissue disease 9.6
737 inherited metabolic disorder 9.6
738 myositis ossificans 9.6
739 spinal stenosis 9.6
740 fibrillary astrocytoma 9.6
741 bilateral breast cancer 9.6
742 subacute thyroiditis 9.6
743 monoclonal gammopathy of uncertain significance 9.6
744 peptic ulcer disease 9.6
745 carotid artery occlusion 9.6
746 fetal adenoma 9.6
747 septic arthritis 9.6
748 mediastinitis 9.6
749 periodontitis 9.6
750 afferent loop syndrome 9.6
751 ileus 9.6
752 influenza 9.6
753 monocytic leukemia 9.6
754 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.6
755 chronic fatigue syndrome 9.6
756 oral cavity cancer 9.6
757 tongue cancer 9.6
758 myeloid sarcoma 9.6
759 neuropathy 9.6
760 atrophic gastritis 9.6
761 status asthmaticus 9.6
762 keratoconjunctivitis 9.6
763 iridocyclitis 9.6
764 diabetes insipidus 9.6
765 allergic asthma 9.6
766 cholangitis 9.6
767 meningitis 9.6
768 periostitis 9.6
769 dystrophinopathies 9.6
770 hereditary transthyretin amyloidosis 9.6
771 hypertrophic cardiomyopathy 9.6
772 sickle cell disease 9.6
773 anaplastic oligodendroglioma 9.6
774 binswanger's disease 9.6
775 central pain syndrome 9.6
776 chromosomal triplication 9.6
777 dentinogenesis imperfecta type 2 9.6
778 enterovesical fistula 9.6
779 fibromatosis 9.6
780 germ cells tumors 9.6
781 hemiplegic migraine 9.6
782 kienbock's disease 9.6
783 lymphangiectasis 9.6
784 nonseminomatous germ cell tumor 9.6
785 oral cancer 9.6
786 orbital varix 9.6
787 pleuroparenchymal fibroelastosis 9.6
788 post-transplant lymphoproliferative disease 9.6
789 primary intestinal lymphangiectasia 9.6
790 retroperitoneal fibrosis 9.6
791 secondary adrenal insufficiency 9.6
792 spondylarthropathy 9.6
793 t-cell prolymphocytic leukemia 9.6
794 sporadic hemiplegic migraine 9.6
795 anoxia 9.6
796 autonomic dysfunction 9.6
797 extrapontine myelinolysis 9.6
798 headache 9.6
799 hypotonia 9.6
800 pituitary tumors 9.6
801 seizure disorder 9.6
802 spasticity 9.6
803 mixed germ cell tumor 9.6
804 low-grade astrocytoma 9.6
805 specific language disorder 9.6
806 rare lymphatic malformation 9.6
807 rare hereditary hemochromatosis 9.6
808 tubulocystic renal cell carcinoma 9.6
809 juvenile nasopharyngeal angiofibroma 9.6
810 homozygous familial hypercholesterolemia 9.6
811 malignant tumor of penis 9.6
812 osteonecrosis of the jaw 9.6
813 avascular necrosis 9.6
814 obsolete: squamous cell carcinoma of head and neck 9.6
815 pik3ca-related overgrowth syndrome 9.6
816 acute liver failure 9.6
817 renal dysplasia 9.6
818 lymphedema 9.6
819 familial thyroid dyshormonogenesis 9.6
820 multiple system atrophy, parkinsonian type 9.6
821 undetermined colitis 9.6
822 thyroid tumor 9.6

Graphical network of the top 20 diseases related to Treacher Collins Syndrome 1:



Diseases related to Treacher Collins Syndrome 1

Symptoms & Phenotypes for Treacher Collins Syndrome 1

Human phenotypes related to Treacher Collins Syndrome 1:

58 31 (showing 76, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 very rare (1%) Very frequent (99-80%) HP:0000272
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
4 micrognathia 58 31 very rare (1%) Very frequent (99-80%) HP:0000347
5 downslanted palpebral fissures 58 31 very rare (1%) Very frequent (99-80%) HP:0000494
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
8 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
9 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
10 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
11 short face 58 31 hallmark (90%) Very frequent (99-80%) HP:0011219
12 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
13 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
14 microtia 58 31 very rare (1%) Frequent (79-30%) HP:0008551
15 absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000561
16 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
17 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
18 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
19 conductive hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000405
20 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
21 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
22 narrow internal auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0011386
23 eyelid coloboma 31 frequent (33%) HP:0000625
24 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
25 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
26 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
27 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
28 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
29 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
30 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
31 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
32 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
33 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
34 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
35 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
36 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
37 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
38 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
39 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
40 choanal atresia 58 31 very rare (1%) Occasional (29-5%) HP:0000453
41 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
42 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
43 abnormality of the adrenal glands 58 31 occasional (7.5%) Occasional (29-5%) HP:0000834
44 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
45 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
46 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
47 abnormality of dental morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0006482
48 abnormality of the vertebral column 58 31 occasional (7.5%) Occasional (29-5%) HP:0000925
49 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
50 multiple enchondromatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005701
51 rectovaginal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000143
52 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
53 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
54 facial cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0002006
55 thyroid hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005990
56 branchial fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0009795
57 intellectual disability 31 very rare (1%) HP:0001249
58 atresia of the external auditory canal 31 very rare (1%) HP:0000413
59 upper eyelid coloboma 31 very rare (1%) HP:0000636
60 preauricular hair displacement 31 very rare (1%) HP:0009554
61 ptosis 31 HP:0000508
62 abnormality of the dentition 58 Frequent (79-30%)
63 abnormal facial shape 58 Very frequent (99-80%)
64 malformation of the heart and great vessels 58 Occasional (29-5%)
65 visual loss 31 HP:0000572
66 cleft eyelid 58 Frequent (79-30%)
67 abnormality of the hair 58 Occasional (29-5%)
68 abnormality of the middle ear 58 Frequent (79-30%)
69 lower eyelid coloboma 31 HP:0000652
70 sparse lower eyelashes 31 HP:0007776
71 abnormal heart morphology 31 HP:0001627
72 bilateral microphthalmos 31 HP:0007633
73 cleft soft palate 31 HP:0000185
74 abnormal parotid gland morphology 31 HP:0000197
75 hypoplasia of the pharynx 31 HP:0009555
76 lacrimal duct stenosis 31 HP:0007678

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures
partial absence of lower eyelashes

Head And Neck Mouth:
macrostomia
mandibular hypoplasia
cleft palate (rare)
palatopharyngeal incompetence

Head And Neck Ears:
hearing loss, conductive
malformation of auricle
ear tags
blind fistulas

Head And Neck Face:
malar hypoplasia
projection of scalp hair onto the lateral cheek

Clinical features from OMIM:

154500

GenomeRNAi Phenotypes related to Treacher Collins Syndrome 1 according to GeneCards Suite gene sharing:

26 (showing 35, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 10.46 EFTUD2 POLR1A RPL11 RPL35A RPL5 RPS19
2 Decreased cell number GR00303-A 10.46 EFTUD2 RPL11 RPL5 RPS19
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.39 RPL5 SF3B4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.39 RPS14
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.39 EFTUD2 NDST1 RPL5 RPS14 SF3B4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.39 RPL5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.39 NDST1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.39 NDST1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.39 EFTUD2 RPL5 RPS14
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.39 NDST1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.39 SF3B4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.39 RPL5 RPS14
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.32 RPL5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.32 POLR1C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.32 POLR1C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.32 EFTUD2 RPL5 RPS14
17 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.32 EFTUD2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.32 RPL5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.32 POLR1C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.32 POLR1C
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.32 RPL5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.32 EFTUD2 RPS14
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.32 POLR1C RPS14
24 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.32 EFTUD2 POLR1C RPL5 RPS14
25 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.32 RPL5
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.32 POLR1C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.32 EFTUD2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.32 POLR1C
29 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.11 EFTUD2 NOLC1 POLR1A POLR1C RPL11 RPL35A
30 FOXO1 nuclear localization GR00247-A-1 9.8 EFTUD2 NDST1 RPL11 WDR43
31 FOXO1 nuclear localization GR00247-A-2 9.8 EFTUD2 RPL11
32 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.58 POLR1A RPL35A WDR43
33 Nuclear 40S maturation defects GR00209-A-2 9.33 RPL11 RPS14 UTP4
34 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL35A RPL5 WDR43
35 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.02 RPL11 RPL35A RPL5 RPS14 UTP4

MGI Mouse Phenotypes related to Treacher Collins Syndrome 1:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 EFTUD2 NDST1 POLR1A POLR1D RPS19 SBDS

Drugs & Therapeutics for Treacher Collins Syndrome 1

Drugs for Treacher Collins Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 5, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal
2 Immunoglobulins
3 Antibodies
4 Pepsin A
5 Gastrointestinal Agents

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 Suitable Method for Routine Diagnostics of EER in Children With Otitis Media With Effusion Completed NCT02183974
2 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
3 Comparison of Three Methods Used in the Diagnosis of Extraesophageal Reflux in Children With Chronic Otitis Media With Effusion Completed NCT02183961
4 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

Search NIH Clinical Center for Treacher Collins Syndrome 1

Cochrane evidence based reviews: mandibulofacial dysostosis

Genetic Tests for Treacher Collins Syndrome 1

Genetic tests related to Treacher Collins Syndrome 1:

# Genetic test Affiliating Genes
1 Treacher Collins Syndrome 1 29 TCOF1
2 Treacher Collins Syndrome 29

Anatomical Context for Treacher Collins Syndrome 1

MalaCards organs/tissues related to Treacher Collins Syndrome 1:

40
Bone, Eye, Heart, Thymus, Thyroid, Adrenal Gland, Skin

Publications for Treacher Collins Syndrome 1

Articles related to Treacher Collins Syndrome 1:

(showing 677, show less)
# Title Authors PMID Year
1
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. 61 24 6 56 54
11013442 2000
2
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. 61 54 56 6 24
9096354 1997
3
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. 61 24 6 56
9042910 1997
4
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. 61 54 6 56
19050407 2009
5
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. 6 56 54 61
15214011 2004
6
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. 61 56 6
24108658 2013
7
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. 61 24 54 56
15340364 2004
8
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. 24 54 6 61
15039977 2004
9
Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. 24 56 61
29364875 2018
10
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 61 24 56
25790162 2016
11
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. 61 6 24
24603435 2014
12
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 61 24 6
21131976 2011
13
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. 6 24 61
8563749 1996
14
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. 6 56
4061487 1985
15
Mandibulo-facial dysostosis. (Treacher-Collins syndrome). 56 24 61
6024864 1967
16
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome. 56 24
22317976 2012
17
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. 61 54 56
20106873 2010
18
Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. 61 54 6
14598341 2003
19
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. 6 24
12114482 2002
20
Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. 54 61 56
10545604 1999
21
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. 54 56 61
8488840 1993
22
Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. 54 56 61
1303194 1992
23
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. 54 61 24
19572402 2009
24
Treacher Collins syndrome: etiology, pathogenesis and prevention. 61 24 54
19107148 2009
25
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. 54 61 24
15930015 2005
26
Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. 24 54 61
15759264 2005
27
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. 56 61
15534141 2004
28
Treacher Collins Syndrome 61 6
20301704 2004
29
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. 61 24 54
15150774 2004
30
Parental origin of mutations in sporadic cases of Treacher Collins syndrome. 61 56
12939661 2003
31
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. 61 54 24
12777385 2003
32
Mutation testing in Treacher Collins Syndrome. 61 24 54
12444270 2002
33
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. 54 24 61
10982400 2000
34
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. 24 54 61
10888597 2000
35
Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 56 61
9736782 1998
36
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. 54 61 24
8894686 1996
37
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. 56 61
8818950 1996
38
Treacher Collins syndrome. 61 56
8875242 1996
39
Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. 56 61
8741923 1996
40
Mild mandibulofacial dysostosis in a child with a deletion of 3p. 56 61
8322816 1993
41
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. 56 61
1765376 1991
42
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. 61 56
1684950 1991
43
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. 61 56
1676560 1991
44
Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. 61 56
1671319 1991
45
Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. 61 56
3474899 1987
46
Older paternal age and fresh gene mutation: data on additional disorders. 61 56
1110452 1975
47
THE TREACHER-COLLINS SYNDROME. 56 61
14216013 1964
48
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. 24 61
28927774 2017
49
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. 24 61
27448281 2016
50
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. 61 24
23695276 2014
51
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. 24 61
24288143 2013
52
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. 61 24
23653874 2013
53
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. 24 61
22712005 2012
54
Treacher Collins syndrome: protocol management from birth to maturity. 61 24
19881372 2009
55
Treacher Collins syndrome: unmasking the role of Tcof1/treacle. 61 24
19027870 2009
56
Treacher Collins syndrome: an undescribed characteristic of the condition and its management with botulinum toxin and surgery. 24 61
19098560 2008
57
Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. 61 24
16632269 2006
58
Surgical treatment of Treacher Collins syndrome. 24 61
16641634 2006
59
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. 24 61
15019983 2004
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The fetal mandible: a 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia. 24 61
11876802 2002
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Hearing loss in the Treacher-Collins syndrome. 61 24
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Clinical features, treatment and genetic background of Treacher Collins syndrome. 61 24
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63
Treacher Collins syndrome: current evaluation, treatment, and future directions. 61 24
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The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. 61 24
9811939 1998
65
Treacher Collins syndrome: perspectives in evaluation and treatment. 61 24
9331237 1997
66
Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. 61 24
9158147 1997
67
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. 24 61
9074926 1997
68
Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. 56
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69
Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. 24 61
8218033 1993
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Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome? 56
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Midtrimester sonographic diagnosis of mandibulofacial dysostosis. 56
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Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. 56
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Anatomical abnormalities in mandibulofacial dysostosis. 56
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MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS. 56
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75
CONGENITAL MIDDLE-EAR DEAFNESS WITH ANOMALIES OF THE FACE. 56
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Mandibulofacial dysostosis. 56
13835025 1960
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[2 Cases of mandibulofacial dysostosis or Franceschetti's syndrome]. 56
13856174 1960
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Genetical investigations in a North-Swedish population; mandibulo-facial dysostosis. 56
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The mandibulofacial dysostosis; a new hereditary syndrome. 56
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Facial dysostoses: Etiology, pathogenesis and management. 24
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. 54 61
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82
Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF. 61 54
19527688 2009
83
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1. 54 61
19067896 2008
84
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. 54 61
18246078 2008
85
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. 61 54
18236814 2007
86
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. 54 61
17431905 2007
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[Treacher Collins syndrome: case report and literature review]. 54 61
16981466 2006
88
Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. 61 54
16801042 2006
89
Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. 61 54
16125876 2005
90
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. 54 61
16102917 2005
91
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. 24
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92
Congenital mandibular hypoplasia: analysis and classification. 24
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[Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]. 61 54
14531285 2003
94
A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. 24
11734546 2001
95
Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. 61 54
11471057 2001
96
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. 61 54
9299440 1997
97
Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. 61 54
8838814 1996
98
Transcriptional map of the Treacher Collins candidate gene region. 61 54
8681136 1996
99
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. 54 61
8281138 1993
100
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. 61 54
8276417 1993
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[Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome]. 61
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Bilateral Parotid Gland Agenesis in Treacher Collins Syndrome: A Case Report. 61
30961377 2019
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Three-Dimensional Upper Airway Assessment in Treacher Collins Syndrome. 61
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[Congenital anomalies of the external ear]. 61
31791458 2019
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Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities. 61
31697622 2019
106
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. 61
31649276 2019
107
Dams TuLip-i™ is a useful device for performing fiberscopy-guided orotracheal intubation in a patient with Treacher Collins syndrome. 61
30684921 2019
108
Comprehensive analysis of syndromic hearing loss patients in Japan. 61
31427586 2019
109
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. 61
30957429 2019
110
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect. 61
31307516 2019
111
Urgent Complex Intraoperative Reintubation in a Known Difficult Airway After Endotracheal Tube Damage: A Case Report. 61
30663995 2019
112
Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography. 61
31307753 2019
113
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome. 61
31107123 2019
114
[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome]. 61
31218872 2019
115
Correlation Between Mandible and External Ear in Patients with Treacher-Collins Syndrome. 61
31166254 2019
116
Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome. 61
30849304 2019
117
Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery. 61
30661728 2019
118
Treacher Collins Syndrome. 61
30851751 2019
119
Rare ribosomopathies: insights into mechanisms of cancer. 61
30670820 2019
120
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 61
30466636 2019
121
A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration. 61
30375284 2019
122
Endotracheal Intubation Complicated by a Palatal Tooth in a Patient With Treacher Collins Syndrome. 61
30883232 2019
123
Preferential Associated Malformation in Patients With Anotia and Microtia. 61
30616309 2019
124
Assessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children. 61
30444784 2019
125
Computer-Assisted Bilateral Orbitozygomatic Reconstruction in a Patient With Treacher Collins Syndrome Using Bicortical Calvarial Graft. 61
30027212 2018
126
Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals? 61
30540014 2018
127
[Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome]. 61
30298495 2018
128
Normative Data of the Interorbital Distance in Thai Population. 61
30234716 2018
129
Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome. 61
30186496 2018
130
Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome. 61
29570515 2018
131
Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis. 61
29905603 2018
132
The Use of Virtual Surgical Planning in Total Facial Skeletal Reconstruction of Treacher Collins Syndrome: A Case Report. 61
30087754 2018
133
Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. 61
29870506 2018
134
Discussion: Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome. 61
30045181 2018
135
Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient. 61
29716177 2018
136
Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia. 61
29664868 2018
137
Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. 61
29381611 2018
138
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 61
29567474 2018
139
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. 61
29230583 2018
140
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. 61
29441214 2018
141
Orbital volume and shape in Treacher Collins syndrome. 61
29275073 2018
142
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish. 61
29128566 2018
143
Congenital Abnormalities of the Temporomandibular Joint. 61
29153239 2018
144
[Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome]. 61
27692368 2018
145
Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. 61
29435930 2018
146
Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome. 61
28820843 2017
147
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity. 61
28973381 2017
148
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. 61
28921562 2017
149
Combining Virtual Surgical Planning, Intraoperative Navigation, and 3-Dimensional Printing in Prosthetic-Based Bilateral Microtia Reconstruction. 61
28137637 2017
150
Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. 61
28643921 2017
151
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. 61
28186364 2017
152
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. 61
28263850 2017
153
A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome. 61
28468148 2017
154
The airway approach to a neonate with Treacher Collins syndrome - Case report. 61
28094032 2017
155
[Clinical diagnosis of Treacher Collins syndrome and the efficacy of using BAHA]. 61
29871318 2017
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Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas. 61
28045828 2017
157
[Growth of maxillo-facial region and related anomalies.] 61
28947685 2017
158
Transcriptome Profiling Identifies Ribosome Biogenesis as a Target of Alcohol Teratogenicity and Vulnerability during Early Embryogenesis. 61
28046103 2017
159
Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. 61
28053912 2016
160
Treacher Collins syndrome: New insights from animal models. 61
27777025 2016
161
Combined soft and skeletal tissue modelling of normal and dysmorphic midface postnatal development. 61
27720275 2016
162
Treacher Collins syndrome: A case report and review of ophthalmic features. 61
29018745 2016
163
Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. 61
27711076 2016
164
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect. 61
28028964 2016
165
Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome. 61
27607112 2016
166
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome. 61
27526242 2016
167
Tcof1-Related Molecular Networks in Treacher Collins Syndrome. 61
27300466 2016
168
Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development. 61
27481486 2016
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Reply: Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 61
27070214 2016
170
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 61
27070215 2016
171
Speech language pathology findings in a Treacher Collins syndrome patient. 61
27488991 2016
172
A quantitative method for defining high-arched palate using the Tcof1(+/-) mutant mouse as a model. 61
26772999 2016
173
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. 61
26972049 2016
174
The Craniofacial and Upper Limb Management of Nager Syndrome. 61
27171953 2016
175
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. 61
26744099 2016
176
Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. 61
26025357 2016
177
Malar Reconstruction Using Y-V Advancement Flaps after Tissue Expansion in Treacher Collins Syndrome. 61
27579239 2016
178
Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies. 61
26756138 2016
179
Study of Genial Tubercles of Craniofacial Anomalies Individuals on Cone Beam Computed Tomography Scans. 61
26890459 2016
180
Long-term orthognathic surgical outcomes in Treacher Collins patients. 61
26638831 2016
181
Airway management in a child with Treacher Collins syndrome using C-MAC videolaryngoscope. 61
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[The research progress of Treacher Collins syndrome]. 61
27373049 2016
183
Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. 61
26710023 2016
184
Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. 61
26792133 2016
185
Evaluation of Interforaminal Mandible Region of Individuals With Pierre Robin Sequence and Treacher Collins Syndrome Through the Cone-Beam Computed Tomography. 61
26674888 2016
186
[Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid]. 61
26298651 2015
187
Congenital Auricular Malformations: Description of Anomalies and Syndromes. 61
26667631 2015
188
Cell-fate determination by ubiquitin-dependent regulation of translation. 61
26399832 2015
189
Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study. 61
25973908 2015
190
CORRIGENDUM: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 61
26240980 2015
191
Erratum to: Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia--a comparative study. 61
25480422 2015
192
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 61
26151409 2015
193
Nasal sequelae of Treacher Collins syndrome. 61
25862218 2015
194
Early Fat Grafting for Augmentation of Orbitozygomatic Region in Treacher Collins Syndrome. 61
26080169 2015
195
Reduced three-dimensional nasal airway volume in treacher collins syndrome and its association with craniofacial morphology. 61
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196
[Reply to the letter on the article «Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of GlideScope videolaryngoscope"»]. 61
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197
[Comment to the article: "Unintended intraoperative extubation in a patient with Treacher Collins syndrome: Usefullness of Glidescope videolaryngoscope"]. 61
25530430 2015
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Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study. 61
25799958 2015
199
Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study. 61
25344415 2015
200
Prevalence of selected congenital anomalies in Saudi children: a community-based study. 61
26336015 2015
201
Surgical management of congenital deformities with temporomandibular joint malformation. 61
25483449 2015
202
Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins syndrome. 61
25626822 2015
203
Neonatal mandibular distraction in a patient with Treacher Collins syndrome. 61
25569412 2015
204
Cleft Lip and/or Palate and Auricular Malformations. 61
24437583 2015
205
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. 61
25348728 2015
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[Juvenile paradental cysts in children after mandible distraction: case-control study and clinical cases presentation]. 61
27002701 2015
207
Review of accessory tragus with highlights of its associated syndromes. 61
25266223 2014
208
Easy airway management using the i-gel™ supraglottic airway in a patient with Treacher Collins syndrome. 61
25598889 2014
209
Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response. 61
25512513 2014
210
Surgical treatment of scoliosis in Treacher Collins syndrome: a case report. 61
25524572 2014
211
Prosthetic Rehabilitation of a Patient with Congenitally Deformed Ears. 61
26199528 2014
212
A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. 61
24994558 2014
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Treacher Collins syndrome: a case study. 61
25439217 2014
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Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report. 61
25379503 2014
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Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. 61
25395774 2014
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[Unintended intraoperative extubation in a patient with Treacher Collins syndrome: usefullness of GlideScope(®) videolaryngoscope]. 61
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Internal mandibular distraction to relieve airway obstruction in children with severe micrognathia. 61
25052572 2014
218
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 61
24942156 2014
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The surgical management of Treacher Collins syndrome. 61
24776174 2014
220
The neural crest: a versatile organ system. 61
25227568 2014
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The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage. 61
25064736 2014
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Cranial neural crest: migratory cell behavior and regulatory networks. 61
24680987 2014
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Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face. 61
23511742 2014
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Successful intubation using McGRATH MAC in a patient with Treacher Collins syndrome. 61
25137871 2014
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Treacher Collins Syndrome: the genetics of a craniofacial disease. 61
24690222 2014
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Ex utero intrapartum treatment of fetal micrognathia. 61
24902142 2014
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Mutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans. 61
24722283 2014
228
Two cases of the "cannot ventilate, cannot intubate" scenario in children in view of recent recommendations. 61
24858967 2014
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Associations between speech features and phenotypic severity in Treacher Collins syndrome. 61
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The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. 61
24572880 2014
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[Neonatal osteogenic mandibular distraction in patient diagnosed with Treacher Collins syndrome]. 61
24071556 2014
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Cholesteatoma of the hypotympanum in a patient with Treacher Collins syndrome. 61
23860365 2014
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Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report. 61
24783649 2014
234
Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development. 61
24497835 2014
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Treacher Collins syndrome with microcornea and retinal detachment. 61
24336587 2013
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[Fiberoptic tracheal intubation through a laryngeal mask airway in a pediatric patient with treacher collins syndrome]. 61
24498771 2013
237
A case of treacher collins syndrome. 61
24778568 2013
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Is there an effect of obstructive sleep apnea syndrome on oxidative stress and inflammatory parameters in patients with craniofacial anomalies? 61
24220372 2013
239
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome. 61
23455582 2013
240
Planning surgical reconstruction in Treacher-Collins syndrome using virtual simulation. 61
24165631 2013
241
Computer-assisted midface reconstruction in Treacher Collins syndrome part 1: skeletal reconstruction. 61
23454266 2013
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Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction. 61
23465636 2013
243
Declining vision: saved by a tracheostomy. 61
24099764 2013
244
Screw implantation in the globe: the risk of delayed hardware migration from craniofacial repair. 61
24036744 2013
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A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome. 61
23838542 2013
246
Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. 61
23615184 2013
247
Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. 61
23664577 2013
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Cephalometric assessment of craniofacial morphology in patients with treacher Collins syndrome. 61
23851757 2013
249
A classification system to guide orbitozygomatic reconstruction in Treacher-Collins syndrome. 61
23481581 2013
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Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. 61
23036831 2013
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Treacher Collins syndrome: sinus of Valsalva aneurysm. 61
23836833 2013
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Outcome of anesthetic management for children with craniofacial deformities. 61
23461698 2013
253
Treacher Collins syndrome: a case report. 61
23709540 2013
254
Orofacial functions and oral health associated with Treacher Collins syndrome. 61
22783882 2013
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Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome. 61
25992018 2013
256
Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations. 61
23352328 2013
257
Re: Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. 61
23273823 2013
258
Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis. 61
23043528 2013
259
Two extraordinarily severe cases of Treacher Collins syndrome. 61
23401420 2013
260
Psychological and social factors in undergoing reconstructive surgery among individuals with craniofacial conditions: an exploratory study. 61
22315960 2013
261
Nucleolar stress in Drosophila melanogaster: RNAi-mediated depletion of Nopp140. 61
23412656 2013
262
A range of condylar hypoplasia exists in Treacher Collins syndrome. 61
22766383 2013
263
A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome. 61
22917695 2013
264
Novel application of human morphomics to quantify temporal soft tissues in Pierre Robin and Treacher Collins. 61
23348276 2013
265
Directed differentiation of human pluripotent cells to neural crest stem cells. 61
23288320 2013
266
Application of the Vibrant Soundbridge middle-ear implant for aural atresia in patients with Treacher Collins syndrome. 61
23168240 2012
267
Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. 61
23154353 2012
268
Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. 61
22729243 2012
269
Optimizing the timing and technique of Treacher Collins orbital malar reconstruction. 61
23154378 2012
270
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. 61
22925539 2012
271
The role of bronchoscopy in the management of patients with severe craniofacial syndromes. 61
22901909 2012
272
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. 61
22415350 2012
273
Anesthesia for Treacher Collins syndrome: a review of airway management in 240 pediatric cases. 61
22394325 2012
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Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. 61
22628272 2012
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Eight year follow-up dental treatment in a patient with Treacher Collins syndrome. 61
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Management of obstructive sleep apnea in pediatric craniofacial anomalies. 61
23483041 2012
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Autologous fat transplantation in the craniofacial patient: the UCLA experience. 61
22777454 2012
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Salivary gland pathology as a new finding in Treacher Collins syndrome. 61
22585367 2012
279
Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. 61
22521672 2012
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Use of the TruView EVO2 laryngoscope in Treacher Collins syndrome after unplanned extubation. 61
22537578 2012
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[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene]. 61
22870720 2012
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Cervical spine in Treacher Collins syndrome. 61
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Treacher collins syndrome. 61
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Neural crest migration: interplay between chemorepellents, chemoattractants, contact inhibition, epithelial-mesenchymal transition, and collective cell migration. 61
23801492 2012
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Screening for obstructive sleep apnea in Treacher-Collins syndrome. 61
22374652 2012
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Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. 61
22456406 2012
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An analysis of mandibular volume in treacher collins syndrome. 61
22456407 2012
288
The potential of adipose-derived stem cells in craniofacial repair and regeneration. 61
22457180 2012
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Improved facial outcome assessment using a 3D anthropometric mask. 61
22103995 2012
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 61
22305528 2012
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Obstructive sleep apnea in Treacher Collins syndrome. 61
21626120 2012
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Multidisciplinary treatment approach in Treacher Collins syndrome. 61
22449504 2012
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Mild form of treacher collins syndrome imitating juvenile otosclerosis. 61
22953143 2012
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Fishing the molecular bases of Treacher Collins syndrome. 61
22295061 2012
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Challenges in evaluation, management and outcome of the patients with Treacher Collins Syndrome. 61
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Treacher Collins syndrome: a case review. 61
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Aplasia of the anterior arch of atlas associated with multiple congenital disorders: case report. 61
21712741 2011
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Clinical spectrum of Treacher Collins syndrome. 61
25756016 2011
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Interim obturator in an infant with Treacher Collins syndrome: Review and chairside modification in impression making. 61
22346164 2011
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Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations. 61
21772136 2011
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Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls. 61
21839526 2011
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Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 61
21951868 2011
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Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids. 61
27678233 2011
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Marathon of eponyms: 20 Treacher Collins syndrome. 61
21781229 2011
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Treacher Collins syndrome. 61
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Franceschetti syndrome. 61
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Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI. 61
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Exploring the genetic origins of Treacher Collins syndrome. 61
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[Mandibular distraction osteogenesis in patients with craniofacial malformation]. 61
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The role of p53 in ribosomopathies. 61
21435506 2011
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Anesthetic challenges and difficulties in the management of Treacher Collins syndrome. 61
25885315 2011
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Retrograde fiberoptic technique to avoid tracheostomy in a patient with a tracheocutaneous fistula and Treacher Collins syndrome. 61
21233744 2011
313
Cytogenetic and clinical assessment of a family with treacher collins syndrome. 61
21765846 2011
314
Relation of the mandibular body and ramus in Treacher Collins syndrome. 61
21239924 2011
315
Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. 61
20734335 2010
316
Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction. 61
21446806 2010
317
[Comment on the article "Use of a metal guide in the working channel of a fiberoptic scope to insert a tracheal tube in an infant with Treacher Collins syndrome and choanal atresia"]. 61
21033462 2010
318
Bilateral orbitozygomatic reconstruction with tissue-engineered bone. 61
20856057 2010
319
Mandibular distraction osteogenesis for pediatric airway management. 61
20417010 2010
320
SILAC analysis of oxidative stress-mediated proteins in human pneumocytes: new role for treacle. 54
20340163 2010
321
CAD/CAM bilateral ear prostheses construction for Treacher Collins syndrome patients using laser scanning and rapid prototyping. 61
19844817 2010
322
Ribosomopathies: human disorders of ribosome dysfunction. 61
20194897 2010
323
[Use of a metal guide in the working channel of a fiberoptic scope to insert a tracheal tube in an infant with Treacher Collins syndrome and choanal atresia]. 61
20337004 2010
324
The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia. 61
20199649 2010
325
Airway management in a patient with Treacher Collins syndrome: A case report. 61
30625938 2009
326
Successful intubation using a simple fiberoptic assisted laryngoscope for Treacher Collins syndrome. 61
19754495 2009
327
Tracheal intubation using pediatric Airtraq optical laryngoscope in a patient with Treacher Collins syndrome. 61
19691702 2009
328
Staged reconstruction for adult complete Treacher Collins syndrome. 61
19816274 2009
329
Clinical experience with the application of distraction osteogenesis for airway obstruction. 61
19816357 2009
330
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 61
19816270 2009
331
Mandibular deformities: single-vector distraction techniques for a multivector problem. 61
19816280 2009
332
Syndromes of the first and second pharyngeal arches: A review. 61
19610085 2009
333
Treacher-collins syndrome-a challenge for anaesthesiologists. 61
20640217 2009
334
Orofacial features of Treacher Collins syndrome. 61
19300363 2009
335
Airtraq laryngoscope for intubation in Treacher Collins syndrome. 61
19638116 2009
336
Use of GlideScope Ranger in the management of a child with Treacher Collins syndrome in a developing world setting. 61
19638114 2009
337
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. 61
19334086 2009
338
Clinical application of curvilinear distraction osteogenesis for correction of mandibular deformities. 61
19375009 2009
339
Perioperative airway management in a child with Treacher Collins syndrome. 61
19318301 2009
340
Composite tissue allotransplantation for the reconstruction of congenital craniofacial defects. 61
19328918 2009
341
[The change of difficulty in intubation as growth in patients with Treacher-Collins syndrome and Pierre-Robin syndrome]. 61
19227168 2009
342
"Bochdalek" skull (syngnathia): CT examination. 61
20196476 2009
343
External distraction osteogenesis in the pediatric mandible. 61
19116570 2009
344
[A case with Treacher-Collins syndrome]. 61
19134260 2008
345
Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression. 61
18771418 2008
346
Dexmedetomidine and ketamine for fiberoptic intubation in a child with severe mandibular hypoplasia. 61
18929288 2008
347
Tessier no. 7 cleft: a new subclassification and management protocol. 61
18766056 2008
348
Genital anomalies in a patient with Treacher Collins syndrome. 61
18627048 2008
349
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. 61
18683396 2008
350
Microsurgical correction of facial contour deformities in patients with craniofacial malformations: a 15-year experience. 61
18520863 2008
351
Inadvertent intracranial insertion of a soft rubber tube in a patient with Treacher-Collins syndrome: case report and review of literature. 61
18188571 2008
352
Fully implantable hearing device as a new treatment of conductive hearing loss in Franceschetti syndrome. 61
18261808 2008
353
Evaluation of molar teeth and buds in patients submitted to mandible distraction: long-term results. 61
18349653 2008
354
A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. 61
18317089 2008
355
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. 61
18000524 2008
356
Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children. 61
18199081 2008
357
Rare craniofacial clefts: a surgical classification. 61
18216674 2008
358
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. 61
18209138 2008
359
Orotracheal intubation with an AirWay Scope in a patient with Treacher Collins syndrome. 61
18500620 2008
360
Orthodontic treatment for a patient with Treacher-Collins syndrome: a case report. 61
19641756 2008
361
Awake tracheal intubation through the laryngeal mask in neonates with upper airway obstruction. 61
18095971 2008
362
Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. 61
18053235 2007
363
Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report. 61
18177190 2007
364
Effect of mandibular distraction osteogenesis on developing molars. 61
17973686 2007
365
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. 61
17786119 2007
366
The use of three-dimensional computed tomography images for anticipated difficult intubation airway evaluation of a patient with Treacher Collins syndrome. 61
17717215 2007
367
The Laryngeal Mask Airway for exchange of a nasal for an orotracheal tube in a patient with Treacher Collins syndrome. 61
17967679 2007
368
[Frontofacial monobloc advancement using the Rigid External Distraction (RED-II) system]. 61
17695776 2007
369
Airway management in a patient with Treacher Collins syndrome requiring emergent cesarean section. 61
17579009 2007
370
Marriage of hard and soft tissues of the face revisited: when distraction meets microsurgery. 61
17589250 2007
371
[One pedigree report of Treacher Collins syndrome]. 61
17702427 2007
372
Treacher-collins syndrome and associated abnormalities. A case report. 61
24299683 2007
373
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 54
17497718 2007
374
Clinical and imaging correlations of Treacher Collins syndrome: report of two cases. 61
17531943 2007
375
RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila. 61
17392509 2007
376
Computer-aided surgical treatment of bilateral choanal atresia. 61
17538334 2007
377
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 61
17483715 2007
378
Treacher Collins syndrome. 61
17552945 2007
379
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 61
17318849 2007
380
Laryngeal mask for airway management in Treacher-Collins syndrome. 61
17585582 2007
381
New grading system for patients with treacher Collins syndrome. 61
17251848 2007
382
[Report of a case with Treacher Collins syndrome]. 61
17349148 2007
383
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? 61
17159508 2007
384
Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndrome. 61
17233367 2006
385
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. 61
16938878 2006
386
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. 61
16877861 2006
387
Treacher-Collins syndrome. 61
16883758 2006
388
Invited discussion: Surgical treatment of Treacher Collins syndrome. 61
16641635 2006
389
A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome. 61
16641628 2006
390
Prosthetic management of a patient with Treacher Collins syndrome. 61
17051873 2006
391
Oral health status of children with treacher Collins syndrome. 61
16681242 2006
392
Accidental choking in a patient with Treacher Collins syndrome. 61
16084601 2006
393
Mandibular distraction osteogenesis with a small semiburied device in neonates: report of 2 cases. 61
16579198 2006
394
Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease. 61
16465596 2006
395
Introduction to genetics for otorhinolaryngology nurses. 61
16696290 2006
396
[Analysis of the complications following mandibular distraction using internal distractors]. 61
16573158 2006
397
Craniofacial anomalies: from development to molecular pathogenesis. 61
16305494 2005
398
Vestibular-evoked myogenic potentials in infancy and early childhood. 61
16094120 2005
399
[The management of the difficult pediatric airway]. 61
15915746 2005
400
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. 61
16446903 2005
401
New hope for Treacher-Collins syndrome: a surgical case report. 61
16525988 2005
402
The change of difficult intubation with growth in a patient with treacher Collins syndrome. 61
15562098 2004
403
Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma. 61
15522210 2004
404
Treacher Collins syndrome: comprehensive evaluation and treatment. 61
18088751 2004
405
The co-existence of Treacher Collins syndrome and Klinefelter syndrome. 61
15468422 2004
406
Treacher Collins syndrome with choanal atresia: one way to handle the airway. 61
15283837 2004
407
Bony overgrowth onto fixture component of a bone-anchored hearing aid. 61
15453943 2004
408
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. 61
15249688 2004
409
Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study. 61
15222792 2004
410
Facial nerve palsy: a complication following anaesthesia in a child with Treacher Collins syndrome. 61
15200660 2004
411
Vertical mesenchymal distraction and bilateral free fibula transfer for severe Treacher Collins syndrome. 61
15083022 2004
412
Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. 61
15042714 2004
413
The airway in patients with craniofacial abnormalities. 61
14717875 2004
414
Mandibular lengthening by distraction for airway obstruction in treacher-collins syndrome: the long-term results. 61
14704562 2004
415
Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans. 61
14597369 2003
416
Successes and failures with the laryngeal mask airway (LMA) in patients with Treacher Collins syndrome - a case series. 61
14617610 2003
417
Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome. 61
14570641 2003
418
[Effects of zygomatic arch resection in rat]. 61
14984671 2003
419
Effects of a child with a craniofacial anomaly on stability of the parental relationship. 61
14501333 2003
420
The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndrome. 61
12846711 2003
421
Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report. 61
12859108 2003
422
Increased fistula risk following palatoplasty in Treacher Collins syndrome. 61
12733957 2003
423
External auditory canal duplication anomalies associated with congenital aural atresia. 61
12590853 2003
424
Craniofacial development: the tissue and molecular interactions that control development of the head. 61
12793205 2003
425
Simple technique for tracheocutaneous fistula closure in the pediatric population. 61
12537053 2003
426
Common craniofacial anomalies: the facial dysostoses. 61
12447054 2002
427
Treacher Collins syndrome (mandibulofacial dysostosis). 61
12438872 2002
428
Transnasal endoscopic treatment of choanal atresia without prolonged stenting. 61
12162774 2002
429
Co-occurrence of Down syndrome and Treacher-Collins syndrome. 61
12139573 2002
430
Treacher Collins Syndrome : A Report on Two Cases. 61
27407399 2002
431
Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. 61
12114479 2002
432
Anaesthetic implications of Nager syndrome. 61
11982847 2002
433
Penile agenesis associated with Treacher Collins syndrome. 61
12108161 2002
434
Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. 61
11994578 2002
435
Further delineation of mandibulofacial dysostosis: Toriello type. 61
12002155 2002
436
Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome. 61
11952976 2002
437
Antenatal three-dimensional sonographic features of Treacher Collins syndrome. 61
11952977 2002
438
Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies. 61
11914220 2002
439
Distraction osteogenesis of zygomatic bone grafts in a patient with Treacher Collins syndrome: a case report. 61
12000886 2002
440
[Oto-mandibular dysplasias: genetics and nomenclature of syndromes]. 61
11770450 2001
441
[Morphological alterations of oto-mandibular syndromes]. 61
11770456 2001
442
Mandibular distraction osteogenesis in very young patients to correct airway obstruction. 61
11496167 2001
443
[Do all patients with mandibular hypoplasia present difficulty in endotracheal intubation?]. 61
11345751 2001
444
Three-dimensional spiral CT of craniofacial malformations in children. 61
11149095 2000
445
Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study. 61
11089896 2000
446
Treacher Collins syndrome with acute airway obstruction. 61
10960695 2000
447
Midface anomalies in children. 61
10903683 2000
448
Treacher Collins syndrome. 61
10868214 2000
449
Treacher Collins syndrome. 61
10544531 1999
450
[Syndromes 11. Treacher collins syndrome]. 61
11930479 1999
451
Mandibular growth after distraction in patients under 48 months of age. 61
10190432 1999
452
Management of difficult airways with a laryngeal mask airway under propofol anaesthesia. 61
10189660 1999
453
Genetic craniofacial aberrations. 61
10066116 1998
454
Skeletal expansion combined with soft-tissue reduction in the treatment of obstructive sleep apnea in children: physiologic results. 61
9807073 1998
455
Treacher Collins syndrome: from linkage to prenatal testing. 61
9850311 1998
456
Prenatal sonographic diagnosis of Treacher Collins syndrome. 61
9572194 1998
457
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies. 61
9605284 1998
458
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. 61
9556298 1998
459
Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline. 61
9628312 1998
460
Audiometric results of bilateral bone-anchored hearing aid application in patients with bilateral congenital aural atresia. 61
9546268 1998
461
Craniofacial abnormalities in sleep apnoea syndrome. 61
9666580 1998
462
Treacher-Collins syndrome and co-existing dermatomyositis. 61
9475567 1998
463
Use of the laryngeal mask airway to preoxygenate in a paediatric patient with Treacher-Collins syndrome. 61
9608980 1998
464
Mandibular reconstruction in children with obstructive sleep apnea due to micrognathia. 61
9326773 1997
465
A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS). 61
12503193 1997
466
Submerged intraoral device for mandibular lengthening. 61
9234090 1997
467
A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis. 61
9105350 1997
468
Variations in the correction of Treacher Collins syndrome. 61
9047182 1997
469
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait. 61
9457496 1997
470
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. 61
9337397 1997
471
Reactive perforating collagenosis in Treacher Collins syndrome. 61
8959959 1996
472
Stapedectomy in the pediatric patient. 61
8914912 1996
473
Special imaging casebook. Treacher Collins syndrome. 61
8915945 1996
474
Respiratory arrest in Treacher-Collins syndrome: implications for dental management: case report. 61
8784917 1996
475
Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome. 61
11873461 1996
476
Microsurgical correction of facial asymmetry in 60 consecutive cases. 61
8559818 1996
477
The Birmingham bone anchored hearing aid programme: paediatric experience and results. 61
9015445 1996
478
Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA). 61
9015449 1996
479
[Treacher Collins syndrome]. 61
9048025 1996
480
Repeated mandibular lengthening in Treacher Collins syndrome: a case report. 61
8636635 1995
481
Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. 61
8579653 1995
482
Mandibulofacial dysostosis: CT findings of the temporal bones. 61
8654460 1995
483
The human and mouse receptors for hyaluronan-mediated motility, RHAMM, genes (HMMR) map to human chromosome 5q33.2-qter and mouse chromosome 11. 61
8595891 1995
484
Treacher Collins syndrome. 61
8558560 1995
485
TREACHER-COLLINS SYNDROME: A Case Report. 61
28769320 1995
486
Treacher Collins syndrome. 61
7582373 1995
487
Microtia grade as an indicator of middle ear development in aural atresia. 61
7619415 1995
488
Treacher Collins syndrome: early surgical treatment of orbitomalar malformations. 61
9020691 1995
489
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. 61
7727083 1995
490
Case of the day. Treacher-Collins syndrome. 61
7602699 1995
491
Treacher Collins syndrome and difficult intubation. 61
7599908 1995
492
Craniofacial development in rats with early resection of the zygomatic arch. 61
7870772 1995
493
Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1. 61
7601448 1995
494
Mandibulofacial dysostosis. Case report. 61
7710415 1995
495
Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. 61
7727483 1995
496
Treacher-Collins syndrome. Management of major and minor anomalies of the ear. 61
7569369 1995
497
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. 61
7489423 1995
498
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. 61
7489482 1995
499
Ear surgery in Treacher Collins syndrome. 61
7832540 1995
500
Treacher Collins syndrome: otologic and auditory management. 61
7696682 1995
501
[Treacher-Collins syndrome: intubation difficulties]. 61
8745985 1995
502
Molecular genetic approaches to the study of human craniofacial dysmorphologies. 61
7721539 1995
503
Prenatal craniofacial development: new insights on normal and abnormal mechanisms. 61
8664424 1995
504
Prenatal craniofacial development: new insights on normal and abnormal mechanisms. 61
7632866 1995
505
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. 61
7711723 1995
506
Molecular biology experimental strategies for craniofacial-oral-dental dysmorphology. 61
7554921 1995
507
Treacher Collins syndrome (mandibulofacial dysostosis). 61
7813160 1994
508
Bone graft of the zygoma in a patient with Treacher-Collins Syndrome. 61
7833404 1994
509
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. 61
8037214 1994
510
Inherited Treacher-Collins syndrome in twins after artificial insemination. 61
7918856 1994
511
Treacher Collins syndrome: correlation between clinical and genetic linkage studies. 61
8055143 1994
512
Recurrence of Treacher Collins' syndrome with sonographic findings. 61
8041477 1994
513
A procedure for the reconstruction of the lateral palpebral canthus. 61
8193077 1994
514
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. 61
8188289 1994
515
Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. 61
8031974 1994
516
Construction of a yeast artificial chromosome contig encompassing the human acidic fibroblast growth factor (FGF1) gene: toward the cloning of the ANLL/MDS tumor-suppressor gene. 61
7514571 1994
517
Eustachian tube dysfunction and its sequelae in patients with cleft palate. 61
8235774 1993
518
Nasotracheal intubation in a child with Treacher Collins syndrome using the Bullard intubating laryngoscope. 61
8123276 1993
519
Natural coral skeleton used as onlay graft for contour augmentation of the face. A preliminary report. 61
7902384 1993
520
Co-occurrence of schizophrenia and Treacher Collins syndrome. 61
8291570 1993
521
Reconstruction of composite facial defects: the combined application of multiple reconstructive modalities. 61
8221401 1993
522
Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome). Figueroa et al., July 1993, Vol. 30, No. 4, 369-375. 61
8218318 1993
523
Imaging of ear deformities in Treacher Collins syndrome. 61
8877182 1993
524
Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome). 61
8399264 1993
525
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. 61
8217543 1993
526
A physical map of 15 loci on human chromosome 5q23-q33 by two-color fluorescence in situ hybridization. 61
8325647 1993
527
[The laryngeal mask versus intubation in difficult intubation conditions in the Franceschetti-Zwahlen-Klein syndrome (Treacher-Collins syndrome)]. 61
8318605 1993
528
Difficult laryngoscopy made easy with a "BURP". 61
8467551 1993
529
Ear malformation and hearing loss in patients with Treacher Collins syndrome. 61
8418881 1993
530
Mandibulofacial dysostosis (Treacher Collins syndrome): a case report. 61
1296999 1992
531
Use of the Augustine stylet anticipating difficult tracheal intubation in Treacher-Collins syndrome. 61
1389198 1992
532
Molteno implants in children. 61
18079648 1992
533
Ear deformities in mandibulofacial dysostosis. 61
1636410 1992
534
Anaesthetic management of Miller's syndrome. 61
1752007 1991
535
Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome. 61
1746829 1991
536
Anaesthesia for Treacher Collins syndrome using a laryngeal mask airway. 61
1752006 1991
537
Mandibulo-facial dysostosis--the eye signs of a case study. 61
1788588 1991
538
Animal models for human craniofacial malformations. 61
1812129 1991
539
Postaxial acrofacial dysostosis (Miller) syndrome: a new case. 61
1683410 1991
540
Craniofacial morphology in Treacher Collins syndrome. 61
2069981 1991
541
Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). 61
1847948 1991
542
Sleep apnoea syndrome associated with maxillofacial abnormalities. 61
2013738 1991
543
Outcome of pregnancy in patients with systemic lupus erythematosus. A prospective study. 61
1992954 1991
544
Vascularized full-thickness parietal bone grafts in maxillofacial reconstruction: the role of the galea and superficial temporal vessels. 61
1989018 1991
545
Craniofacial anomalies in twins. 61
1984262 1991
546
[Orthomorphic facial treatment of patients with sequelae of bilateral lip-palate cleft by the "mask-lifting" procedure]. 61
2087277 1990
547
Ocular findings in Treacher Collins syndrome. 61
2396653 1990
548
Application and comparison of techniques for three-dimensional analysis of craniofacial anomalies. 61
2098169 1990
549
Congenital malformations of the external, middle, and inner ear produced by isotretinoin exposure in mouse embryos. 61
2113267 1990
550
[Mandibulofacial dysostosis or Treacher-Collins syndrome: clinical case]. 61
2097952 1990
551
Involvement of the thymus and cellular immune system in craniofacial malformation syndromes. 61
2094477 1990
552
[Anesthesia in a patient with Treacher-Collins syndrome]. 61
2339214 1990
553
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. 61
2092586 1990
554
Prenatal diagnosis by isoenzymic differentiation of Treacher Collins' syndrome induced by retinoids in rats. 61
2177918 1990
555
Orbital protrusion index in Treacher-Collins syndrome: a tool for determining the degree of soft-tissue damage. 61
2639743 1989
556
Treacher Collins syndrome: an otologic challenge. 61
2802464 1989
557
A significant feature of Nager's syndrome: palatal agenesis. 61
2748737 1989
558
Treacher Collins syndrome: present concepts of the disorder and their surgical correction. 61
2773500 1989
559
Pathogenesis of cleft palate in Treacher Collins, Nager, and Miller syndromes. 61
2758673 1989
560
[Treacher-Collins syndrome]. 61
2639499 1989
561
Detailed morphometry of the nose in patients with Treacher Collins syndrome. 61
2735721 1989
562
Treacher-Collins syndrome: an association with polyhydramnios. 61
3141842 1988
563
Emotional and behavioral reactions to facially deformed patients before and after craniofacial surgery. 61
3406177 1988
564
The physical attractiveness of facially deformed patients before and after craniofacial surgery. 61
3399554 1988
565
Familial Treacher-Collins syndrome. 61
3411217 1988
566
[Artificial ventilation of the lungs by transtracheal injection--a method of achieving safety in the tracheal intubation of patients with ankyloses of the temporomandibular joints and in Treacher Collins syndrome]. 61
3164126 1988
567
The aetiology and pathogenesis of craniofacial deformity. 61
3074909 1988
568
Treacher Collins syndrome and achalasia. 61
3443734 1987
569
[Reconstructive surgery of Treacher-Collins syndrome]. 61
3151624 1987
570
Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome. 61
3442295 1987
571
Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery. 61
3690093 1987
572
Anaesthesia for Treacher Collins syndrome. 61
3581409 1987
573
[Maxillofacial abnormalities of syndromes of the 1st branchial arch]. 61
3328544 1987
574
Results of the Tessier integral procedure for correction of Treacher Collins syndrome. 61
3545545 1986
575
[X-ray picture of the skull changes in Treacher Collins' syndrome]. 61
3467474 1986
576
The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). 61
3763724 1986
577
Three-dimensional CT reformation in children. 61
3085443 1986
578
Treacher-Collins syndrome and neurofibromatosis. 61
3084396 1986
579
Surface morphology in Treacher Collins syndrome: an anthropometric study. 61
3863724 1985
580
Three-dimensional cranial surface reconstructions using high-resolution computed tomography. 61
4061585 1985
581
An analysis of 12 years of craniomaxillofacial surgery in Toronto. 61
4011777 1985
582
Tracheal intubation in an infant with Treacher-Collins syndrome--pulling out the tongue by a forceps. 61
3970385 1985
583
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. 61
3877095 1985
584
Treacher-Collins syndrome with deviated nasal septum. 61
6537408 1984
585
The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. 61
6387737 1984
586
The spectrum of calvarial bone grafting: introduction of the vascularized calvarial bone flap. 61
6739582 1984
587
Prenatal diagnosis of mandibulofacial dysostosis. 61
6463027 1984
588
Treacher-Collins syndrome with sleep apnea: anesthetic considerations. 61
6419642 1984
589
Difficult laryngoscopy/intubation: the child with mandibular hypoplasia. 61
6881849 1983
590
A new fascial flap for use in craniofacial surgery. 61