BDSD
MCID: BRC004
MIFTS: 42

Brachydactyly-Syndactyly Syndrome (BDSD)

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

Aliases & Classifications for Brachydactyly-Syndactyly Syndrome

MalaCards integrated aliases for Brachydactyly-Syndactyly Syndrome:

Name: Brachydactyly-Syndactyly Syndrome 56 12 73 36 29 13 6 43 15 39 71
Brachydactyly-Syndactyly-Oligodactyly Syndrome 73 6
Bdsd 56 73
Brachydactyly-Syndactyly, Zhao Type 58
Syndactyly 43
Bdsdo 73

Characteristics:

Orphanet epidemiological data:

58
brachydactyly-syndactyly, zhao type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050689
OMIM 56 610713
KEGG 36 H00870
ICD10 via Orphanet 33 Q73.8
Orphanet 58 ORPHA93409
MedGen 41 C1853137
UMLS 71 C1853137

Summaries for Brachydactyly-Syndactyly Syndrome

UniProtKB/Swiss-Prot : 73 Brachydactyly-syndactyly syndrome: A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1.
Brachydactyly-syndactyly-oligodactyly syndrome: A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes.

MalaCards based summary : Brachydactyly-Syndactyly Syndrome, also known as brachydactyly-syndactyly-oligodactyly syndrome, is related to brachydactyly, type a4 and brachydactyly, type d. An important gene associated with Brachydactyly-Syndactyly Syndrome is HOXD13 (Homeobox D13). Affiliated tissues include skin and bone, and related phenotypes are short 5th metacarpal and toe syndactyly

Disease Ontology : 12 A syndrome that is characterized by brachydactyly and syndactyly, has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

KEGG : 36 This condition is a rare disease with complex brachydactyly and syndactyly. It is linked to HOXD13, a gene that is essential for limb development. Defects in HOXD13 are the cause of brachydactyly [DS:H00482] and synpolydactyly [DS:H00459].

More information from OMIM: 610713

Related Diseases for Brachydactyly-Syndactyly Syndrome

Diseases related to Brachydactyly-Syndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 438, show less)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type a4 30.2 HOXD13 EPHA7
2 brachydactyly, type d 29.7 HOXD13 HOXD12
3 townes-brocks syndrome 29.0 HOXD13 HOXD11
4 chromosome 2q35 duplication syndrome 28.9 HOXD9 HOXD13 HOXD12 HOXD11
5 tibia, hypoplasia or aplasia of, with polydactyly 28.7 HOXD9 HOXD13 HOXD12
6 clubfoot 28.2 HOXD13 HOXD12 HOXD11 HOXD10
7 synpolydactyly 28.1 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
8 syndactyly, type v 27.6 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10 EPHA7
9 brachydactyly 27.3 MBOAT1 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
10 syndactyly, type iii 12.8
11 syndactyly, mesoaxial synostotic, with phalangeal reduction 12.8
12 syndactyly, type iv 12.8
13 cenani-lenz syndactyly syndrome 12.7
14 toe syndactyly, telecanthus, and anogenital and renal malformations 12.6
15 ectodermal dysplasia-syndactyly syndrome 1 12.6
16 syndactyly-polydactyly-earlobe syndrome 12.5
17 blepharophimosis with ptosis, syndactyly, and short stature 12.5
18 syndactyly type 6 12.4
19 ectodermal dysplasia-syndactyly syndrome 2 12.3
20 aphalangia, partial, with syndactyly and duplication of metatarsal iv 12.3
21 coronal synostosis, syndactyly and jejunal atresia 12.3
22 ectodermal dysplasia with mental retardation and syndactyly 12.2
23 cleft lip/palate-ectodermal dysplasia syndrome 12.2
24 filippi syndrome 12.2
25 eyebrows, duplication of, with stretchable skin and syndactyly 12.2
26 syndactyly-nystagmus syndrome due to 2q31.1 microduplication 12.2
27 fraser syndrome 1 12.1
28 timothy syndrome 12.1
29 zygodactyly 1 12.1
30 metacarpal 4-5 fusion 12.1
31 microphthalmia with limb anomalies 12.1
32 saethre-chotzen syndrome 12.1
33 cleft lip palate oligodontia syndactyly pili torti 12.1
34 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.1
35 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 12.1
36 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome 12.1
37 non-syndromic polydactyly, syndactyly and/or hyperphalangy 12.1
38 poland syndrome 12.0
39 apert syndrome 12.0
40 greig cephalopolysyndactyly syndrome 12.0
41 sclerosteosis 12.0
42 polydactyly, preaxial iv 11.9
43 sclerosteosis 1 11.9
44 kozlowski-krajewska syndrome 11.8
45 trueb burg bottani syndrome 11.8
46 acropectoral syndrome 11.7
47 oculodentodigital dysplasia 11.7
48 anophthalmos with limb anomalies 11.7
49 megalencephaly-capillary malformation-polymicrogyria syndrome 11.6
50 zygodactyly type 2 11.6
51 zygodactyly type 3 11.6
52 popliteal pterygium syndrome 11.6
53 zygodactyly type 4 11.5
54 pfeiffer syndrome 11.5
55 wahab syndrome 11.5
56 green sandford davison syndrome 11.5
57 pallister-hall syndrome 11.5
58 feingold syndrome 1 11.5
59 scalp-ear-nipple syndrome 11.5
60 van buchem disease 11.5
61 split-hand/foot malformation 1 11.4
62 brachydactyly, type b1 11.4
63 blepharocheilodontic syndrome 1 11.4
64 andersen cardiodysrhythmic periodic paralysis 11.4
65 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.4
66 zerres rietschel majewski syndrome 11.4
67 carpenter syndrome 1 11.4
68 split hand-foot malformation 11.3
69 chromosome 17p13.3, telomeric, duplication syndrome 11.3
70 sclerosteosis 2 11.3
71 amyotrophy, hereditary neuralgic 11.2
72 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.2
73 dandy-walker syndrome 11.2
74 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 11.2
75 acrofrontofacionasal dysostosis 2 11.2
76 smith-lemli-opitz syndrome 11.2
77 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.2
78 camptosynpolydactyly, complex 11.2
79 focal dermal hypoplasia 11.2
80 stapes ankylosis with broad thumbs and toes 11.2
81 adult syndrome 11.1
82 lacrimoauriculodentodigital syndrome 11.1
83 bartsocas-papas syndrome 11.1
84 brachydactyly, type b2 11.1
85 adams-oliver syndrome 1 11.1
86 acropectorovertebral dysplasia 11.1
87 lenz-majewski hyperostotic dwarfism 11.1
88 ablepharon-macrostomia syndrome 11.1
89 split-hand/foot malformation 6 11.1
90 split-hand/foot malformation 3 11.1
91 oculodentodigital dysplasia, autosomal recessive 11.1
92 oliver syndrome 11.1
93 orofaciodigital syndrome i 11.1
94 grange syndrome 11.1
95 split-hand/foot malformation 4 11.1
96 craniosynostosis and dental anomalies 11.1
97 feingold syndrome 2 11.1
98 adams-oliver syndrome 5 11.1
99 adams-oliver syndrome 6 11.1
100 periventricular nodular heterotopia 7 11.1
101 fraser syndrome 2 11.1
102 fraser syndrome 3 11.1
103 squalene synthase deficiency 11.1
104 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 11.1
105 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 11.1
106 adams-oliver syndrome 11.1
107 hennekam syndrome 11.1
108 autosomal dominant deafness-onychodystrophy syndrome 11.1
109 gollop coates syndrome 11.1
110 landy-donnai syndrome 11.1
111 pfeiffer rockelein syndrome 11.1
112 pfeiffer tietze welte syndrome 11.1
113 angel-shaped phalangoepiphyseal dysplasia 10.9
114 ankyloblepharon-ectodermal defects-cleft lip/palate 10.9
115 atelosteogenesis, type iii 10.9
116 basal cell nevus syndrome 10.9
117 blepharonasofacial malformation syndrome 10.9
118 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 10.9
119 camptobrachydactyly 10.9
120 van der woude syndrome 1 10.9
121 coloboma of macula with type b brachydactyly 10.9
122 jackson-weiss syndrome 10.9
123 waardenburg syndrome, type 3 10.9
124 klippel-trenaunay-weber syndrome 10.9
125 acrofacial dysostosis 1, nager type 10.9
126 schilbach-rott syndrome 10.9
127 split-foot deformity with mandibulofacial dysostosis 10.9
128 split-hand with congenital nystagmus, fundal changes, and cataracts 10.9
129 symphalangism with multiple anomalies of hands and feet 10.9
130 liebenberg syndrome 10.9
131 acrocallosal syndrome 10.9
132 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 10.9
133 cleft-limb-heart malformation syndrome 10.9
134 agenesis of the corpus callosum with peripheral neuropathy 10.9
135 cranioectodermal dysplasia 1 10.9
136 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 10.9
137 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 10.9
138 mental retardation, buenos aires type 10.9
139 jawad syndrome 10.9
140 nijmegen breakage syndrome 10.9
141 mohr syndrome 10.9
142 orofaciodigital syndrome ix 10.9
143 postaxial acrofacial dysostosis 10.9
144 thrombocytopenia-absent radius syndrome 10.9
145 white forelock with malformations 10.9
146 chromosome xp11.23-p11.22 duplication syndrome 10.9
147 craniofrontonasal syndrome 10.9
148 otopalatodigital syndrome, type ii 10.9
149 aarskog-scott syndrome 10.9
150 tarp syndrome 10.9
151 split-hand/foot malformation 2 10.9
152 aminopterin syndrome sine aminopterin 10.9
153 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 10.9
154 cleft palate, cardiac defects, and mental retardation 10.9
155 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 10.9
156 fallot complex with severe mental and growth retardation 10.9
157 curry-jones syndrome 10.9
158 acrofacial dysostosis, palagonia type 10.9
159 phelan-mcdermid syndrome 10.9
160 split-hand/foot malformation 5 10.9
161 lathosterolosis 10.9
162 frias syndrome 10.9
163 fontaine progeroid syndrome 10.9
164 adams-oliver syndrome 2 10.9
165 adams-oliver syndrome 3 10.9
166 adams-oliver syndrome 4 10.9
167 culler-jones syndrome 10.9
168 hennekam lymphangiectasia-lymphedema syndrome 2 10.9
169 nevus comedonicus 10.9
170 chitayat syndrome 10.9
171 neurodevelopmental, jaw, eye, and digital syndrome 10.9
172 acrofrontofacionasal dysostosis 10.9
173 acrofacial dysostosis, patagonia type 10.9
174 chromosome 15q24 deletion syndrome 10.9
175 chromosome 16p11.2 deletion syndrome 10.9
176 orofaciodigital syndrome 10.9
177 8p23.1 duplication syndrome 10.9
178 charlie m syndrome 10.9
179 chromosome 17q deletion 10.9
180 diploid-triploid mosaicism 10.9
181 fibular hemimelia 10.9
182 froster-huch syndrome 10.9
183 intellectual disability-spasticity-ectrodactyly syndrome 10.9
184 macrodactyly of fingers 10.9
185 oculomaxillofacial dysostosis 10.9
186 orofaciodigital syndrome 13 10.9
187 pyramidal molars-abnormal upper lip syndrome 10.9
188 scott bryant graham syndrome 10.9
189 warman mulliken hayward syndrome 10.9
190 synpolydactyly 2 10.7
191 polydactyly 10.7
192 ectodermal dysplasia 10.5
193 synostosis 10.4
194 cryptophthalmos 10.4
195 cleft lip 10.4
196 keloid disorder 10.3
197 keloid formation 10.3
198 cleft lip/palate 10.3
199 symphalangism, distal 10.3
200 synpolydactyly 3 10.3
201 proximal symphalangism 10.3
202 microcephaly 10.3
203 craniosynostosis 10.3
204 macrodactyly 10.3
205 long qt syndrome 10.2
206 synpolydactyly 1 10.2
207 dauwerse-peters syndrome 10.2
208 autosomal recessive disease 10.2
209 ptosis 10.2
210 epidermolysis bullosa 10.2
211 overgrowth syndrome 10.2
212 polysyndactyly, crossed 10.2
213 cleft palate, isolated 10.2
214 hypertelorism 10.2
215 dowling-degos disease 1 10.2
216 radioulnar synostosis 10.2
217 isolated split hand-split foot malformation 10.2
218 central polydactyly 10.2
219 renal hypoplasia 10.1
220 dysostosis 10.1
221 hypotrichosis 10.1
222 epidermolysis bullosa dystrophica 10.1
223 cataract 10.1
224 gigantism 10.1
225 polydactyly, preaxial ii 10.0
226 alacrima, achalasia, and mental retardation syndrome 10.0
227 hydrocephalus 10.0
228 47,xyy 10.0
229 fgfr craniosynostosis syndromes 10.0
230 hypotonia 10.0
231 acanthosis nigricans 10.0
232 aplasia cutis congenita, nonsyndromic 10.0
233 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
234 kabuki syndrome 1 10.0
235 kindler syndrome 10.0
236 polydactyly, postaxial, type a1 10.0
237 telecanthus 10.0
238 constricting bands, congenital 10.0
239 cutis marmorata telangiectatica congenita 10.0
240 jejunal atresia 10.0
241 sandhoff disease 10.0
242 opitz gbbb syndrome, type i 10.0
243 fryns microphthalmia syndrome 10.0
244 endometrial cancer 10.0
245 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
246 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
247 pulmonary hypertension 10.0
248 periventricular nodular heterotopia 10.0
249 tooth agenesis 10.0
250 atrioventricular block 10.0
251 cardiac arrest 10.0
252 umbilical hernia 10.0
253 recessive dystrophic epidermolysis bullosa 10.0
254 hypogonadotropic hypogonadism 10.0
255 microphthalmia 10.0
256 hypospadias 10.0
257 anhidrosis 10.0
258 arteriovenous malformation 10.0
259 oligohydramnios 10.0
260 amenorrhea 10.0
261 gonadal dysgenesis 10.0
262 heart septal defect 10.0
263 hypogonadism 10.0
264 hyperostosis 10.0
265 acrodermatitis 10.0
266 turner syndrome 10.0
267 skin disease 10.0
268 waardenburg's syndrome 10.0
269 pathologic nystagmus 10.0
270 alopecia 10.0
271 hypoglycemia 10.0
272 pik3ca-related segmental overgrowth 10.0
273 polymicrogyria 10.0
274 sost-related sclerosing bone dysplasias 10.0
275 bustos simosa pinto cisternas syndrome 10.0
276 chromosomal triplication 10.0
277 craniosynostosis philadelphia type 10.0
278 pili torti 10.0
279 weber syndrome 10.0
280 hemimelia 10.0
281 preaxial deficiency, postaxial polydactyly, and hypospadias 9.9 HOXD13 HOXD10
282 abducens palsy 9.8
283 neurofibromatosis, type ii 9.8
284 adie pupil 9.8
285 arteries, anomalies of 9.8
286 atrial standstill 1 9.8
287 breasts and/or nipples, aplasia or hypoplasia of, 1 9.8
288 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
289 coloboma of macula 9.8
290 contractural arachnodactyly, congenital 9.8
291 dysplasia epiphysealis hemimelica 9.8
292 ear malformation 9.8
293 basan syndrome 9.8
294 epicanthus 9.8
295 exostoses, multiple, type ii 9.8
296 adermatoglyphia 9.8
297 endosteal hyperostosis, autosomal dominant 9.8
298 treacher collins syndrome 1 9.8
299 marfan syndrome 9.8
300 moebius syndrome 9.8
301 neuropathy, hereditary, with liability to pressure palsies 9.8
302 optic nerve hypoplasia, bilateral 9.8
303 buschke-ollendorff syndrome 9.8
304 pelger-huet anomaly 9.8
305 polydactyly, preaxial iii 9.8
306 neural tube defects 9.8
307 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 9.8
308 spondyloepiphyseal dysplasia congenita 9.8
309 sturge-weber syndrome 9.8
310 teeth present at birth 9.8
311 thanatophoric dysplasia, type i 9.8
312 down syndrome 9.8
313 renal hypodysplasia/aplasia 1 9.8
314 acrocraniofacial dysostosis 9.8
315 acrofrontofacionasal dysostosis 1 9.8
316 cryptorchidism, unilateral or bilateral 9.8
317 rosselli-gulienetti syndrome 9.8
318 hydrops fetalis, nonimmune 9.8
319 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
320 marden-walker syndrome 9.8
321 ohdo syndrome 9.8
322 mulibrey nanism 9.8
323 robinow syndrome, autosomal recessive 1 9.8
324 second metatarsal-metacarpal syndrome 9.8
325 spondyloperipheral dysplasia 9.8
326 tibial hemimelia 9.8
327 radial ray deficiency, x-linked 9.8
328 hemophilia a 9.8
329 otopalatodigital syndrome, type i 9.8
330 ataxia and polyneuropathy, adult-onset 9.8
331 band heterotopia 9.8
332 yemenite deaf-blind hypopigmentation syndrome 9.8
333 branchiootic syndrome 1 9.8
334 astigmatism 9.8
335 tonoki syndrome 9.8
336 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 9.8
337 orthostatic intolerance 9.8
338 atrioventricular septal defect 9.8
339 patent ductus arteriosus 1 9.8
340 lissencephaly 1 9.8
341 chromosome 16p13.3 deletion syndrome, proximal 9.8
342 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 9.8
343 chromosome 2q31.1 duplication syndrome 9.8
344 cyanosis, transient neonatal 9.8
345 nail disorder, nonsyndromic congenital, 9 9.8
346 joint laxity, short stature, and myopia 9.8
347 helix syndrome 9.8
348 hypertrophic scars 9.8
349 west syndrome 9.8
350 familial adenomatous polyposis 9.8
351 asphyxiating thoracic dystrophy 9.8
352 scoliosis 9.8
353 sclerocornea 9.8
354 robinow syndrome 9.8
355 myelomeningocele 9.8
356 cerebellar hypoplasia 9.8
357 familial isolated trichomegaly 9.8
358 monocular esotropia 9.8
359 blepharophimosis 9.8
360 suppression amblyopia 9.8
361 amblyopia 9.8
362 rickets 9.8
363 hydronephrosis 9.8
364 constrictive pericarditis 9.8
365 hemopericardium 9.8
366 pericardial effusion 9.8
367 myopia 9.8
368 cortical blindness 9.8
369 visual epilepsy 9.8
370 hypertrophic cardiomyopathy 9.8
371 osteopoikilosis 9.8
372 tinea pedis 9.8
373 telangiectasis 9.8
374 lagophthalmos 9.8
375 osteopetrosis 9.8
376 hyperparathyroidism 9.8
377 hypothyroidism 9.8
378 keratosis 9.8
379 ventricular septal defect 9.8
380 squamous cell carcinoma 9.8
381 pericarditis 9.8
382 neuritis 9.8
383 atrial heart septal defect 9.8
384 enthesopathy 9.8
385 keratopathy 9.8
386 psychotic disorder 9.8
387 hemangioma 9.8
388 cystic lymphangioma 9.8
389 palmoplantar keratosis 9.8
390 cellulitis 9.8
391 kallmann syndrome 9.8
392 agnosia 9.8
393 pustulosis of palm and sole 9.8
394 urinary tract obstruction 9.8
395 congestive heart failure 9.8
396 paraplegia 9.8
397 pulmonary valve stenosis 9.8
398 retinal degeneration 9.8
399 neuropathy 9.8
400 psoriasis 9.8
401 dermatophytosis 9.8
402 speech disorder 9.8
403 esotropia 9.8
404 hemophilia 9.8
405 flna-related periventricular nodular heterotopia 9.8
406 aminoaciduria 9.8
407 chiari malformation type 3 9.8
408 choroid plexus cyst 9.8
409 encephalocele 9.8
410 exencephaly 9.8
411 fibromatosis 9.8
412 infantile digital fibromatosis 9.8
413 precocious puberty 9.8
414 pustular psoriasis 9.8
415 schisis association 9.8
416 raynaud phenomenon 9.8
417 bunion 9.8
418 megalencephaly 9.8
419 seizure disorder 9.8
420 syncope 9.8
421 tremor 9.8
422 bicornuate uterus 9.8
423 facial cleft 9.8
424 congenital subglottic stenosis 9.8
425 renal agenesis, bilateral 9.8
426 ring chromosome 9.8
427 hyperphalangy 9.8
428 renal dysplasia 9.8
429 ulnar hemimelia 9.8
430 hyperpigmentation of the skin 9.8
431 microtia 9.8
432 autosomal trisomy 9.8
433 colobomatous microphthalmia 9.8
434 non-syndromic limb malformation 9.8
435 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.8
436 brachydactyly, type e1 9.6 HOXD13 HOXD12
437 laurin-sandrow syndrome 9.3 HOXD12 HOXD11
438 hand-foot-genital syndrome 9.0 HOXD9 HOXD13 HOXD12 HOXD10

Graphical network of the top 20 diseases related to Brachydactyly-Syndactyly Syndrome:



Diseases related to Brachydactyly-Syndactyly Syndrome

Symptoms & Phenotypes for Brachydactyly-Syndactyly Syndrome

Human phenotypes related to Brachydactyly-Syndactyly Syndrome:

58 31 (showing 12, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short 5th metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010047
2 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
3 short middle phalanx of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004220
4 short fifth metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0004704
5 short middle phalanx of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009577
6 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
7 symphalangism affecting the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009773
8 brachydactyly 31 HP:0001156
9 finger syndactyly 31 HP:0006101
10 oligodactyly 31 HP:0012165
11 short phalanx of finger 31 HP:0009803
12 camptodactyly 31 HP:0012385

Clinical features from OMIM:

610713

MGI Mouse Phenotypes related to Brachydactyly-Syndactyly Syndrome:

45 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.72 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 muscle MP:0005369 9.56 HOXD10 HOXD12 HOXD13 HOXD9
3 renal/urinary system MP:0005367 9.46 HOXD10 HOXD11 HOXD13 HOXD9
4 reproductive system MP:0005389 9.35 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
5 skeleton MP:0005390 9.02 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Drugs & Therapeutics for Brachydactyly-Syndactyly Syndrome

Interventional clinical trials:

(showing 10, show less)
# Name Status NCT ID Phase Drugs
1 A Comparative Open-Label Multicentre Clinical Trial To Assess The Efficacy And Safety Of A New Therapy With Cultured Chimeric Skin For The Treatment Of Skin Lesions In Patients With Epidermolysis Bullosa Completed NCT00987142 Phase 2 CX501
2 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
3 A Randomized, Open-label Trial to Compare the Functional and Radiological Results of Syndactyly Versus Closed Reduction and Immobilization in Patients With 5th Metacarpal Neck Fracture Completed NCT03434587
4 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
5 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
6 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
7 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Recruiting NCT03107546
8 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
9 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders Active, not recruiting NCT00691223
10 Treatment of Proximal Interphalangeal Joint Injuries. Comparative Study of the Clinical Efficiency and Cost of Syndactyly Treatment Versus Immobilization and Compression Versus no Compression Terminated NCT02548260

Search NIH Clinical Center for Brachydactyly-Syndactyly Syndrome

Cochrane evidence based reviews: syndactyly

Genetic Tests for Brachydactyly-Syndactyly Syndrome

Genetic tests related to Brachydactyly-Syndactyly Syndrome:

# Genetic test Affiliating Genes
1 Brachydactyly-Syndactyly Syndrome 29 HOXD13

Anatomical Context for Brachydactyly-Syndactyly Syndrome

MalaCards organs/tissues related to Brachydactyly-Syndactyly Syndrome:

40
Skin, Bone

Publications for Brachydactyly-Syndactyly Syndrome

Articles related to Brachydactyly-Syndactyly Syndrome:

(showing 7, show less)
# Title Authors PMID Year
1
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61 56 6
17236141 2007
2
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. 6 56
23995701 2013
3
Method of bilateral pleural drainage by single Blake drain after esophagectomy. 61
25488715 2015
4
Using the mood disorder questionnaire and bipolar spectrum diagnostic scale to detect bipolar disorder and borderline personality disorder among eating disorder patients. 61
23443034 2013
5
Characterization of zinc-solubilizing Bacillus isolates and their potential to influence zinc assimilation in soybean seeds. 61
22450791 2012
6
Grouping and trajectories of the neuropsychiatric symptoms in patients with Alzheimer's disease, part I: symptom clusters. 61
20930289 2010
7
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. 61
17440500 2007

Variations for Brachydactyly-Syndactyly Syndrome

ClinVar genetic disease variations for Brachydactyly-Syndactyly Syndrome:

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD13 NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del)deletion Pathogenic 14875 rs878854346 2:176957790-176957810 2:176093062-176093082
2 HOXD13 NM_000523.4(HOXD13):c.973C>A (p.Gln325Lys)SNV Pathogenic 225655 rs875989842 2:176959399-176959399 2:176094671-176094671

UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly-Syndactyly Syndrome:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Gln325Lys VAR_076835 rs875989842

Expression for Brachydactyly-Syndactyly Syndrome

Search GEO for disease gene expression data for Brachydactyly-Syndactyly Syndrome.

Pathways for Brachydactyly-Syndactyly Syndrome

GO Terms for Brachydactyly-Syndactyly Syndrome

Cellular components related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Biological processes related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.8 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
2 single fertilization GO:0007338 9.55 HOXD9 HOXD10
3 embryonic digit morphogenesis GO:0042733 9.54 HOXD13 HOXD12
4 skeletal system development GO:0001501 9.54 HOXD13 HOXD12 HOXD10
5 pattern specification process GO:0007389 9.52 HOXD13 HOXD12
6 embryonic limb morphogenesis GO:0030326 9.51 HOXD13 HOXD10
7 embryonic skeletal system morphogenesis GO:0048704 9.49 HOXD9 HOXD10
8 skeletal muscle tissue development GO:0007519 9.48 HOXD9 HOXD10
9 adult locomotory behavior GO:0008344 9.46 HOXD9 HOXD10
10 proximal/distal pattern formation GO:0009954 9.43 HOXD9 HOXD10
11 peripheral nervous system neuron development GO:0048935 9.32 HOXD9 HOXD10
12 hindlimb morphogenesis GO:0035137 9.26 HOXD9 HOXD10
13 forelimb morphogenesis GO:0035136 9.16 HOXD9 HOXD10
14 anterior/posterior pattern specification GO:0009952 9.13 HOXD9 HOXD13 HOXD10
15 multicellular organism development GO:0007275 9.1 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10 EPHA7

Molecular functions related to Brachydactyly-Syndactyly Syndrome according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10
3 sequence-specific DNA binding GO:0043565 9.02 HOXD9 HOXD13 HOXD12 HOXD11 HOXD10

Sources for Brachydactyly-Syndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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