Aliases & Classifications for Telecanthus

MalaCards integrated aliases for Telecanthus:

Name: Telecanthus 56 29 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
telecanthus:
Inheritance autosomal dominant inheritance


Summaries for Telecanthus

MalaCards based summary : Telecanthus is related to blepharophimosis and epicanthus. An important gene associated with Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18). Affiliated tissues include eye, heart and skin, and related phenotypes are intellectual disability and telecanthus

Wikipedia : 74 Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the... more...

More information from OMIM: 187350

Related Diseases for Telecanthus

Diseases related to Telecanthus via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 100, show less)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis 31.0 KAT6B FOXL2
2 epicanthus 30.2 KAT6B FOXL2
3 renal hypoplasia 29.6 SALL1 KAT6B
4 ptosis 29.5 NOTCH3 KAT6B FOXL2
5 toe syndactyly, telecanthus, and anogenital and renal malformations 12.7
6 microcornea, myopic chorioretinal atrophy, and telecanthus 12.7
7 syndromic telecanthus 12.2
8 opitz gbbb syndrome, type ii 12.1
9 donnai-barrow syndrome 11.7
10 blepharophimosis, ptosis, and epicanthus inversus 11.7
11 opitz-gbbb syndrome 11.7
12 hypertelorism 11.4
13 frontonasal dysplasia with alar clefts 11.4
14 waardenburg's syndrome 11.4
15 nasopalpebral lipoma-coloboma syndrome 11.4
16 mesomelia-synostoses syndrome 11.4
17 opitz gbbb syndrome, type i 11.3
18 krauss herman holmes syndrome 11.3
19 lateral meningocele syndrome 11.2
20 orofaciodigital syndrome ix 11.2
21 chromosome 3pter-p25 deletion syndrome 11.2
22 short stature with microcephaly and distinctive facies 11.2
23 simosa craniofacial syndrome 11.2
24 fetal akinesia syndrome, x-linked 11.2
25 blepharonasofacial malformation syndrome 11.0
26 branchiooculofacial syndrome 11.0
27 jacobsen syndrome 11.0
28 waardenburg syndrome, type 3 11.0
29 orofaciodigital syndrome x 11.0
30 scalp-ear-nipple syndrome 11.0
31 waardenburg syndrome, type 2a 11.0
32 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.0
33 barber-say syndrome 11.0
34 camptodactyly syndrome, guadalajara, type i 11.0
35 cranioectodermal dysplasia 1 11.0
36 frontofacionasal dysplasia 11.0
37 kaufman oculocerebrofacial syndrome 11.0
38 restrictive dermopathy, lethal 11.0
39 orofaciodigital syndrome viii 11.0
40 waardenburg syndrome, type 2b 11.0
41 gracile bone dysplasia 11.0
42 waardenburg syndrome, type 2e 11.0
43 chromosome 2p16.1-p15 deletion syndrome 11.0
44 cranioectodermal dysplasia 2 11.0
45 orofaciodigital syndrome xiv 11.0
46 intellectual developmental disorder with impaired language and dysmorphic facies 11.0
47 3mc syndrome 11.0
48 van maldergem syndrome 11.0
49 stac3 disorder 11.0
50 seaver cassidy syndrome 11.0
51 branchiootic syndrome 1 10.2
52 ectropion 10.2
53 coloboma of macula 10.2
54 strabismus 10.2
55 chromosome 2q35 duplication syndrome 10.2
56 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
57 joint laxity, short stature, and myopia 10.2
58 suppression amblyopia 10.2
59 amblyopia 10.2
60 hypospadias 10.2
61 myopia 10.2
62 mechanical strabismus 10.2
63 cleft palate, isolated 10.0
64 distichiasis 10.0
65 heterochromia iridis 10.0
66 lipomatosis, multiple 10.0
67 hemifacial microsomia 10.0
68 optic nerve hypoplasia, bilateral 10.0
69 split-hand/foot malformation 1 10.0
70 vesicoureteral reflux 1 10.0
71 autism 10.0
72 cryptorchidism, unilateral or bilateral 10.0
73 hartsfield syndrome 10.0
74 inguinal hernia 10.0
75 hereditary lymphedema i 10.0
76 sensorineural hearing loss 10.0
77 pleomorphic lipoma 10.0
78 microcephaly 10.0
79 hydronephrosis 10.0
80 oligohydramnios 10.0
81 amenorrhea 10.0
82 dysostosis 10.0
83 craniosynostosis 10.0
84 holoprosencephaly 10.0
85 cleft lip 10.0
86 hypermobile ehlers-danlos syndrome 10.0
87 coloboma of iris 10.0
88 dwarfism 10.0
89 hypotonia 10.0
90 cleft lip/palate 10.0
91 isolated split hand-split foot malformation 10.0
92 patent urachus 10.0
93 congenital ectropion uveae 10.0
94 congenital ectropion 10.0
95 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 COL5A2 COL11A1
96 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.9 COL5A2 COL11A1
97 stickler syndrome 9.7 COL5A2 COL11A1
98 hermaphroditism 9.5 KAT6B FOXL2
99 eyelid disease 9.5 KAT6B FOXL2
100 duane retraction syndrome 9.5 SALL1 FOXL2

Graphical network of the top 20 diseases related to Telecanthus:



Diseases related to Telecanthus

Symptoms & Phenotypes for Telecanthus

Human phenotypes related to Telecanthus:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 telecanthus 31 HP:0000506
3 bilateral cleft lip and palate 31 HP:0002744
4 anodontia 31 HP:0000674

Symptoms via clinical synopsis from OMIM:

56
Neuro:
mental retardation

Mouth:
bilateral cleft lip and cleft palate

Eyes:
increased medial canthi separation without abnormal separation of the orbits

Teeth:
dental agenesis

Clinical features from OMIM:

187350

GenomeRNAi Phenotypes related to Telecanthus according to GeneCards Suite gene sharing:

26 (showing 36, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.96 COL5A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.96 COL11A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.96 COL11A1 COL5A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.96 COL11A1 COL5A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.96 COL11A1 COL5A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.96 COL11A1 COL5A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.96 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.96 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-185 9.96 COL11A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.96 ADAMTS18
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.96 ADAMTS18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.96 COL11A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-69 9.96 COL11A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.96 COL11A1 COL5A2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.96 COL11A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.75 COL11A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.75 COL5A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.75 ADAMTS18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.75 COL11A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.75 ADAMTS18
22 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.75 COL11A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 ADAMTS18
24 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.75 COL11A1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.75 ADAMTS18 COL11A1 COL5A2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.75 COL11A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.75 ADAMTS18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.75 ADAMTS18 COL11A1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.75 ADAMTS18
30 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 ADAMTS18 COL11A1 COL5A2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.75 ADAMTS18
32 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.75 ADAMTS18 COL11A1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 COL5A2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.75 COL11A1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.75 ADAMTS18
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 COL11A1

MGI Mouse Phenotypes related to Telecanthus:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 CCNQ COL11A1 COL5A2 CRIPT DDX6 FOXL2
2 respiratory system MP:0005388 9.02 ADAMTS18 COL11A1 COL5A2 NOTCH3 WDR35

Drugs & Therapeutics for Telecanthus

Search Clinical Trials , NIH Clinical Center for Telecanthus

Genetic Tests for Telecanthus

Genetic tests related to Telecanthus:

# Genetic test Affiliating Genes
1 Telecanthus 29

Anatomical Context for Telecanthus

MalaCards organs/tissues related to Telecanthus:

40
Eye, Heart, Skin, Bone, Brain, Kidney

Publications for Telecanthus

Articles related to Telecanthus:

(showing 369, show less)
# Title Authors PMID Year
1
Expressivity of heritable telecanthus in five generations of a kindred. 56 61
5002294 1971
2
Objective measurement of interpupillary distance. 56
5365062 1969
3
Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction. 61
32011541 2020
4
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. 61
32006683 2020
5
Ipsilateral transnasal medial canthopexy to correct secondary telecanthus after naso-orbito-ethmoid fracture. 61
32151558 2020
6
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance. 61
31945512 2020
7
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
8
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. 61
31980904 2020
9
Traumatic Telecanthus and Posterior Lacrimal Crest Avulsion in a Six-Year-Old Child. 61
31490433 2019
10
Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome. 61
31658799 2019
11
A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome. 61
31033640 2019
12
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. 61
31422817 2019
13
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report. 61
31363371 2019
14
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder. 61
30213762 2019
15
Orbital Trauma. 61
31037047 2019
16
Complications and Treatment of Delayed or Inadequately Treated Nasoorbitoethmoid Fractures. 61
31037052 2019
17
Correction of Congenital Telecanthus by Extended Medial Epicanthoplasty With Skin Redraping Method. 61
30870171 2019
18
Management of median and paramedian craniofacial clefts. 61
30691993 2019
19
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 61
30827496 2019
20
Pediatric Nasoorbitoethmoid Fractures: Cause, Classification, and Management. 61
30589796 2019
21
Nablus syndrome: Easy to diagnose yet difficult to solve. 61
30580486 2018
22
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. 61
30314436 2018
23
Diagnostic algorithm of Down syndrome by minor physical anomaly. 61
30581204 2018
24
Amniotic Band Syndrome: A Review of 2 Cases. 61
29634607 2018
25
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. 61
29861108 2018
26
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. 61
29134781 2018
27
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 61
29021403 2018
28
STAR syndrome plus: The first description of a female patient with the lethal form. 61
29088509 2017
29
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome. 61
28849110 2017
30
Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism. 61
28635121 2017
31
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. 61
27880066 2017
32
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon. 61
28302550 2017
33
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. 61
28322501 2017
34
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 61
28332779 2017
35
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. 61
28328127 2017
36
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome. 61
28211977 2017
37
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. 61
27324866 2017
38
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. 61
28511421 2017
39
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. 61
28924383 2017
40
Single-Stage Combined Craniofacial Repair for Frontoethmoidal Meningoencephalocele. 61
27831977 2017
41
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. 61
28050470 2016
42
Educational report: A case of lacrimal sac rhinosporidiosis. 61
27541939 2016
43
[Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome]. 61
30358289 2016
44
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands. 61
27354242 2016
45
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. 61
26882209 2016
46
Ocular Findings in Children With 22q11.2 Deletion Syndrome. 61
27182748 2016
47
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. 61
27139419 2016
48
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. 61
27488160 2016
49
Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus. 61
27220260 2016
50
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. 61
27104747 2016
51
Understanding paediatric allergic fungal sinusitis: Is it more aggressive? 61
26363894 2015
52
Achondroplasia and Macular Coloboma. 61
26692730 2015
53
[Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES]. 61
26790275 2015
54
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. 61
26323275 2015
55
Allergic fungal rhino sinusitis with granulomas: A new entity? 61
26026173 2015
56
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome. 61
26114849 2015
57
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. 61
25979662 2015
58
Syndromic lipomatosis of the head and neck: a review of the literature. 61
25860506 2015
59
Blepharophimosis syndrome with absent tear production. 61
24777257 2015
60
A modified staged surgical intervention for blepharophimosis-ptosis-epicanthus inversus syndrome: 125 cases with encouraging results. 61
24164792 2015
61
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 61
25394726 2015
62
A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings. 61
26043072 2015
63
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome. 61
27081523 2015
64
An atypical presentation of sinus mucopyocele in a pediatric cystic fibrosis patient. 61
25999690 2015
65
Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion. 61
26594242 2015
66
Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies. 61
25510709 2014
67
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). 61
25192944 2014
68
Hypertelorism. 61
25593412 2014
69
[Pay attention to patient's visual function in oculoplastic surgery for congenital blepharophimosis syndrome]. 61
25385371 2014
70
Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy. 61
24801133 2014
71
Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus"). 61
25032695 2014
72
Etiology, incidence and patterns of mid-face fractures and associated ocular injuries. 61
24822001 2014
73
External dacryocystorhinostomy and transnasal canthopexy: new details of combined surgery. 61
24608331 2014
74
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature. 61
25136230 2014
75
[Naso-ethmoido-maxillary protrusion (NEMP): a specific dysmorphosis]. 61
24630318 2014
76
Adjunctive techniques to traditional advancement procedures for treating severe blepharoptosis. 61
24675191 2014
77
Medial canthopexy of old unrepaired naso-orbito-ethmoidal (noe) traumatic telecanthus. 61
23731578 2014
78
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. 61
24722273 2014
79
Medial canthopexy using Y-V epicanthoplasty incision in the correction of telecanthus. 61
23407259 2014
80
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 61
25587461 2014
81
Ophthalmologic observations in a patient with partial mosaic trisomy 8. 61
23406309 2013
82
Reconstruction of the medial canthus using an ipsilateral paramedian forehead flap. 61
24286048 2013
83
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. 61
24218572 2013
84
Ophthalmologic findings in Russian children with fetal alcohol syndrome. 61
23661538 2013
85
Traumatic nasolacrimal duct obstruction: clinical profile, management, and outcome. 61
23516252 2013
86
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. 61
23868078 2013
87
Cranioectodermal Dysplasia 61
24027799 2013
88
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. 61
23818446 2013
89
A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. 61
23873869 2013
90
Ocular genetic disease in the Middle East. 61
23846189 2013
91
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. 61
23687348 2013
92
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. 61
23636874 2013
93
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. 61
24192682 2013
94
Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family. 61
22697357 2013
95
Cranialization of the frontal sinus for secondary mucocele prevention following open surgery for benign frontal lesions. 61
24376760 2013
96
Osteoblastoma of the ethmoid sinus. 61
24974411 2013
97
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. 61
22686506 2012
98
A new method of medial epicanthoplasty for patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 61
22835816 2012
99
Two-Stage Correction of Blepharophimosis Syndrome: Analysis of Surgical Outcome. 61
26107727 2012
100
Medial canthopexy using transcaruncular barb and miniplate: technique and cadaver study. 61
22854168 2012
101
[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports]. 61
23471332 2012
102
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. 61
22473091 2012
103
Making a malleable awl using a Steinmann pin for transnasal medial canthopexy. 61
22965014 2012
104
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 61
22821852 2012
105
Orbito-ocular soft tissue measurements in young adults--an indigenous Negro population study. 61
22571465 2012
106
Anthropometry of the medial canthal ligament related to naso-orbitoethmoidal fractures. 61
22801111 2012
107
A further patient with van Maldergem syndrome. 61
22469822 2012
108
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy? 61
22489068 2012
109
Single stage surgery for Blepharophimosis syndrome. 61
22569380 2012
110
Transcutaneous medial canthal tendon incision to the medial orbit. 61
22410662 2012
111
[Eye pathology in the paintings of Georges de La Tour (II). Telecanthus: the fortune teller]. 61
22248656 2012
112
New technique for medial canthoplasty that incorporates modified v-w epicanthoplasty. 61
22250269 2012
113
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. 61
21934608 2012
114
[Blepharophimosis ptosis epicanthus inversus syndrome (BPES) (corrected)]. 61
22241538 2012
115
A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. 61
21455822 2011
116
Medial canthal degloving injuries: the triad of telecanthus, ptosis, and lacrimal trauma. 61
21921742 2011
117
Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome. 61
21562436 2011
118
[Clinical features and treatment of lateral orbital wall blow-in fracture]. 61
22177126 2011
119
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. 61
21739578 2011
120
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. 61
21980853 2011
121
Congenital ectropion uveae with iris coloboma and telecanthus. 61
21256075 2011
122
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH. 61
21567913 2011
123
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 61
21507892 2011
124
Branchiooculofacial Syndrome 61
21634087 2011
125
Synchronous Paget disease of bone and hyperparathyroidism: report of a case with extensive craniofacial involvement. 61
21333565 2011
126
Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report. 61
21371068 2011
127
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. 61
21567902 2011
128
Ophthalmic considerations in cleft lip and palate patients. 61
22379315 2011
129
Diverse clinical and genetic aspects of craniofrontonasal syndrome. 61
21215906 2011
130
Degenerative pleomorphic adenoma of the nasal cavity. 61
21185250 2011
131
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. 61
23074674 2011
132
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. 61
21035106 2010
133
Barber-Say syndrome in a father and daughter. 61
20799330 2010
134
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 61
20734337 2010
135
A case of chorioretinal coloboma in a patient with achondroplasia. 61
21052511 2010
136
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). 61
20186811 2010
137
Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. 61
19929410 2010
138
A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report. 61
20420036 2010
139
[Primary, definitive treatment of the nasoethmoidorbital-midface-frontobasal injuries in the maxillofacial practice]. 61
19812020 2009
140
Microarray based analysis of 3p25-p26 deletions (3p- syndrome). 61
19760623 2009
141
Sincipital encephaloceles. 61
19816364 2009
142
Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. 61
19170718 2009
143
Branchio-oculo-facial syndrome (BOFS) and congenital heart defects. 61
19360235 2009
144
Toriello-Carey syndrome in a Turkish newborn. 61
19852430 2009
145
The Arrhinias. 61
19401938 2009
146
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome? 61
19012336 2008
147
Identification of copy number variants associated with BPES-like phenotypes. 61
18953567 2008
148
The secondary correction of post-traumatic craniofacial deformities. 61
18984259 2008
149
Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? 61
18680192 2008
150
The role of micro-anchor devices in medial canthopexy. 61
18580149 2008
151
Peters plus syndrome. 61
18759095 2008
152
One-stage correction for blepharophimosis syndrome. 61
17115018 2008
153
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. 61
18297069 2008
154
A new approach on reconstruction of frontonasal encephalomeningocele assisted with medpor. 61
18362740 2008
155
[Orbitoblepharophimosis syndrome--own clinical experience in treatment of 60 patients]. 61
18655455 2008
156
Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part I. An orbital anthropomorphometric evaluation of the Khmer subpopulation of Cambodia. 61
18216679 2008
157
Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part II. A novel surgical approach in the treatment of telecanthus. 61
18216680 2008
158
Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population. 61
18947798 2007
159
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. 61
17653043 2007
160
What is the incidence of hypertelorism in Filipino frontonasal encephalocele patients? 61
17414274 2007
161
Ocular manifestations in fetal alcohol syndrome. 61
17294389 2007
162
A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux. 61
17187628 2007
163
Terminal 14q32.33 deletion: genotype-phenotype correlation. 61
17022077 2006
164
The FG syndrome: report of a large Italian series. 61
16691600 2006
165
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. 61
17050282 2006
166
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 61
16639408 2006
167
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. 61
16814186 2006
168
A complex therapy for treatment of frontoethmoidal meningoencephalocele in a developing third world country: neurosurgical aspects. 61
16848090 2006
169
Correction of blepharophimosis with silicone implant suspensor. 61
16641709 2006
170
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. 61
16543195 2006
171
Reconstruction of the nasal dorsum with autologous rib cartilage. 61
16508354 2006
172
[A case of arima syndrome (cerebro-oculo-hepato-renal syndrome) in long-term survival with hemodialysis]. 61
17184024 2006
173
Technical considerations in replantation of total scalp avulsions. 61
16482784 2006
174
[Surgical management of naso-orbital-ethmoid fractures]. 61
16329830 2005
175
Cryptic duplication and deletion of 9q34.3 --> qter in a family with a t(9;22)(q34.3;p11.2). 61
16104013 2005
176
Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis. 61
16179228 2005
177
Valproate embryopathy: clinical and cognitive profile in 5 siblings. 61
15669094 2005
178
An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. 61
15905642 2005
179
Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists. 61
15628630 2004
180
Dysmorphology and the orbital region: a practical clinical approach. 61
15530943 2004
181
De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. 61
15228573 2004
182
Blepharophimosis, Ptosis, and Epicanthus Inversus 61
20301614 2004
183
Profile of trauma-related residual periorbital deformities in Indian children. 61
16200451 2004
184
Visual impairment and ocular abnormalities in children with fetal alcohol syndrome. 61
15223541 2004
185
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. 61
15057119 2004
186
[Surgical treatment of congenital eyelid malpositions in children]. 61
15039636 2004
187
Bilateral choanal atresia in an adult: is it compatible with life? 61
15068529 2004
188
Autosomal recessive frontotemporal pachygyria. 61
14708094 2004
189
Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus. 61
12884435 2003
190
Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype? 61
12838568 2003
191
Orbitoblepharophimosis syndrome: a 16-year perspective. 61
12621168 2003
192
Waardenburg syndrome: clinical differentiation between types I and II. 61
12599185 2003
193
Further delineation of the Toriello-Carey syndrome: a report of two siblings. 61
12494442 2003
194
Provisional new syndrome of MR/MCA with evolving phenotype. 61
12407715 2002
195
Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome. 61
12401988 2002
196
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]. 61
12239712 2002
197
Midfacial fractures in children. 61
12368996 2002
198
Oral-Facial-Digital Syndrome Type I 61
20301367 2002
199
A second family with blepharo-naso-facial syndrome. 61
12072799 2002
200
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs. 61
11992488 2002
201
Craniofacial anthropometry in a Turkish population. 61
11879080 2002
202
Clinical presentation of allergic fungal sinusitis in children. 61
12148872 2002
203
Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies. 61
11825849 2002
204
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. 61
11746009 2001
205
Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review. 61
11903338 2001
206
A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition. 61
11675686 2001
207
Midfacial degloving: an alternative approach for traumatic corrections in the midface. 61
11518347 2001
208
Normative values of craniofacial measurements in idiopathic benign macrocephalic children. 61
11386435 2001
209
Toriello-Carey syndrome: case report with additional findings. 61
11169567 2001
210
Late sequelae after high midface trauma. 61
11153423 2000
211
[The subcranial approach to the anterior skull base. Retrospective study of 75 cases]. 61
11148340 2000
212
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. 61
10995571 2000
213
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature. 61
10960697 2000
214
Detailed mapping of a congenital heart disease gene in chromosome 3p25. 61
10922384 2000
215
[Frontoethmoidal meningoencephaloceles]. 61
10997082 2000
216
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 61
20301622 2000
217
Paecilomyces fungus infection of the paranasal sinuses. 61
10767468 2000
218
Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. 61
10756348 2000
219
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. 61
10661905 2000
220
Knobloch syndrome involving midline scalp defect of the frontal region. 61
10607954 2000
221
Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. 61
11761556 2000
222
Normal values of inner canthal distance, interpupillary distance and palpebral fissure length in normal Chinese children in Taiwan. 61
10910555 2000
223
Two sisters with Toriello-Carey syndrome. 61
10564882 1999
224
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients. 61
10528252 1999
225
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. 61
10482878 1999
226
Case report on SHORT syndrome. 61
10457859 1999
227
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint. 61
10191085 1999
228
A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome. 61
10631920 1999
229
11q- syndrome: three cases and a review of the literature. 61
10546104 1999
230
The deletions of 22q11--the Portuguese experience. 61
10191429 1999
231
Non-randomized comparison of surgical modalities for paranasal sinus mycoses with intracranial extension. 61
10424088 1999
232
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another ophthalmologic complication. 61
9856566 1998
233
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome? 61
9856555 1998
234
A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization. 61
9800904 1998
235
Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications. 61
9610812 1998
236
Ocular anomalies in the branchio-oculo-facial syndrome. 61
9524030 1998
237
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? 61
9546830 1998
238
Naso-orbital-ethmoid complex fracture management. 61
10371895 1998
239
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. 61
9266197 1997
240
Segregation of a familial balanced (12;10) insertion resulting in Dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in first cousins. 61
9056559 1997
241
Transnasal canthoplasty. 61
11951418 1997
242
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. 61
9084938 1997
243
New syndrome: brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers. 61
9018412 1997
244
Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features. 61
9150851 1997
245
Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability. 61
9028461 1997
246
Proteus syndrome: new findings in seven patients. 61
9050755 1997
247
De novo balanced translocation (6;18)(q21;q21.3 or q22) [corrected] in a patient with heterotaxia. 61
8958327 1996
248
Toriello-Carey syndrome: evidence for X-linked inheritance. 61
8923938 1996
249
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. 61
8880580 1996
250
Ophthalmic manifestations of Smith-Magenis syndrome. 61
8684798 1996
251
Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: severe frontofacionasal "dysplasia" or newly recognised syndrome? 61
8725783 1996
252
New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. 61
8779319 1996
253
Refined genetic and physical mapping of BPES type II. 61
8800926 1996
254
The bicoronal flap approach in craniofacial trauma. 61
11951482 1996
255
Effectiveness of primary correction of traumatic telecanthus. 61
8627099 1995
256
Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. 61
7586645 1995
257
Michels syndrome in a Brazilian girl born to consanguineous parents. 61
7677137 1995
258
Pitt-Rogers-Danks syndrome: further delineation. 61
7762580 1995
259
Specific acromesomelia with facial and renal anomalies: a new syndrome. 61
7735504 1995
260
Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. 61
8538074 1995
261
[Fetal alcohol syndrome and bilateral uniform posterior haze of the cornea]. 61
8983538 1995
262
Treatment of congenital forms of telecanthus with custom-designed titanium medial canthal tendon screws. 61
7947448 1994
263
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. 61
8074148 1994
264
Deletion 5q35.3. 61
8092192 1994
265
One-stage repair of blepharophimosis: a new method. 61
8208806 1994
266
Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome. 61
8026105 1994
267
Dup(1q)(q42-->qter) syndrome: case report and review of literature. 61
7507296 1993
268
[Coffin-Lowry syndrome and hyperprolinemia]. 61
8135609 1993
269
[Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias]. 61
8487481 1993
270
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. 61
8465860 1993
271
[Comments on Kuckelkorn R., Reim M.: On a family with blepharophimosis, ptosis, epicanthus inversus and telecanthus--the occurrence of the hereditary marker in 5 generations]. 61
8464211 1993
272
[A family with blepharophimosis, ptosis, epicanthus inversus and telecanthus. Occurrence of the hereditary marker in five generations]. 61
1479790 1992
273
Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. 61
1476577 1992
274
Ocular findings and visual evoked potential response in the Prader-Willi syndrome. 61
1451020 1992
275
Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature. 61
1472705 1992
276
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. 61
1415342 1992
277
Repair of telecanthus by anterior fixation of cantilevered miniplates. 61
1495794 1992
278
Management of combined frontonaso-orbital/skull base fractures and telecanthus in 355 cases. 61
1637538 1992
279
New case of Toriello-Carey syndrome. 61
1536182 1992
280
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? 61
1633641 1992
281
Holoprosencephaly, telecanthus and ectrodactyly: a second case. 61
1342859 1992
282
MCA/MR syndrome in two female siblings: new entity or variant examples of Coffin-Lowry versus Atkin-Flaitz syndromes? 61
1388932 1992
283
Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases. 61
1466563 1992
284
Correction of telecanthus in the blepharophimosis syndrome. 61
1639597 1992
285
New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies. 61
1776627 1991
286
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). 61
1951596 1991
287
Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation. 61
1785626 1991
288
Nasopalpebral lipoma-coloboma syndrome. 61
1756608 1991
289
Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]. 61
1719812 1991
290
Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. 61
1887852 1991
291
Mother and son with deletion of 3p25-pter. 61
2063913 1991
292
[Primary management of the traumatized telecanthus]. 61
1869145 1991
293
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. 61
1723604 1991
294
Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. 61
2240028 1990
295
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex. 61
2389797 1990
296
Intercanthal and interpupillary distance in the black population. 61
2356079 1990
297
Craniofacial and oral manifestations of fetal alcohol syndrome. 61
2315390 1990
298
Ophthalmologic findings in the Cornelia de Lange syndrome. 61
2348318 1990
299
Avulsion of the canalicular system. 61
2616116 1989
300
Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? 61
2556918 1989
301
Complex orbital fractures: a critical analysis of immediate bone graft reconstruction. 61
2660715 1989
302
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. 61
2658591 1989
303
A new syndrome with distinct facial and auricular malformations and dominant inheritance. 61
2929657 1989
304
Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? 61
3223497 1988
305
The telecanthus-hypospadias syndrome. 61
3050099 1988
306
Posttraumatic telecanthus. 61
3268495 1988
307
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 61
3351901 1988
308
Deletions of proximal 15q without Prader-Willi syndrome. 61
3688019 1987
309
Surgery of massive fibrous dysplasia and osteoma of the midface. 61
3667297 1987
310
Terminal deletion 1q43 in a newborn with hydrocephalus. 61
3499845 1987
311
Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son. 61
3728571 1986
312
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. 61
3742859 1986
313
The Dubowitz syndrome. 61
3709570 1986
314
A distinctive facial appearance in neurofibromatosis von Recklinghausen. 61
3927724 1985
315
[Klein-Waardenburg syndrome. Report of 3 cases in a family with a review of the literature]. 61
4010406 1985
316
Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son. 61
3970067 1985
317
The Dubowitz syndrome: a retrospective. 61
3877102 1985
318
The pattern and incidence of nasolacrimal injury in naso-orbital-ethmoid fractures: the role of delayed assessment and dacryocystorhinostomy. 61
3967108 1985
319
Observations on distichiasis, telecanthus, ectropion and blow-out orbital fracture. 61
6487188 1984
320
Frontonasal encephalocele--"long nose hypertelorism". 61
6666962 1983
321
[1-stage procedure in the reconstruction of frontobasal middle face fractures. Modifications and treatment modalities]. 61
6678725 1983
322
[Injury of the interorbital space: II. Therapy. Pathology and therapy of the traumatic telecanthus]. 61
6629870 1983
323
[Trauma of the interorbital space. Pathology and therapy of traumatic telecanthus. 1. Pathology]. 61
6874427 1983
324
Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. 61
6864429 1983
325
The Noonan syndrome. 61
6884370 1983
326
Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation. 61
6837629 1983
327
Uses of fascia in ophthalmology and the benefits of autogenous sources. 61
7108706 1982
328
Pathologic features of the eye in trisomy 9. 61
6809924 1982
329
[One-stage reconstruction of intraorbital fractures by means of plate osteosynthesis (author's transl)]. 61
7109803 1982
330
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. 61
7091184 1982
331
[Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)]. 61
7098370 1982
332
Multiple congenital abnormalities in a newborn boy associated with maternal use of fluphenazine enanthate and other drugs during pregnancy. 61
7136644 1982
333
Eyeground malformations in the fetal alcohol syndrome. 61
6890860 1982
334
Natural history of the congenital eyelid tetrad (Komoto's syndrome). 61
7316339 1981
335
Fetal alcohol syndrome. 61
7264859 1981
336
[An index for the study of orbital hypertelorism and telecanthus]. 61
6977155 1981
337
A new method for telecanthus correction in Waardenburg syndrome. 61
6791571 1981
338
[Anterior cleavage syndrome associated with endocrine orbitopathy (author's transl)]. 61
6973664 1981
339
Medial canthoplasty: early and delayed repair. 61
7464379 1981
340
Duplication 3p syndrome: report of a new case and review of the literature. 61
7246613 1981
341
The pulley canthopexy for residual telecanthus after hypertelorism repair or facial trauma. 61
7004317 1980
342
The correction of telecanthus and epicanthal folds. 61
6994012 1980
343
Naso-ethmoid-orbital fractures. 61
7392106 1980
344
[Correction of post-traumatic hypertelorism (author's transl)]. 61
7451255 1980
345
Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family. 61
7395898 1980
346
A distinct variant of the Ehlers-Danlos syndrome. 61
519906 1979
347
Medial canthal ligament reconstruction. 61
543652 1979
348
Posttraumatic pseudohypertelorism. (Telecanthus). 61
760717 1979
349
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. 61
438926 1979
350
The G syndrome: a case report. 61
474619 1979
351
Is there an embryo-fetal exogenous sex steroid exposure syndrome (EFESSES)? 61
421915 1979
352
Ocular findings in a newborn with cri du chat syndrome. 61
418724 1978
353
Phenotypic overlap of the BBB and G syndromes. 61
263434 1978
354
Pseudohypertelorism and its implications in the treatment of facial fractures. 61
616444 1977
355
The 11q -- syndrome. 61
844873 1977
356
[Diagnosis and primary management of traumatic telecanthus]. 61
272348 1977
357
Deletion of 11q: report of two cases and a review. 61
953212 1976
358
The hypertelorism-hypospadias syndrome. 61
1223121 1975
359
The inheritance of the Aarskog facial-digital-genital syndrome. 61
1127528 1975
360
[The syndrome of blepharophimosis, blepharoptosis, epicanthus inversus, and telecanthus (author's transl)]. 61
804340 1975
361
Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. 61
235844 1975
362
[Surgical technic for the prevention of postoperative telecanthus in naso-ethmoidal fractures]. 61
1059583 1975
363
[Post-traumatic telecanthus. Early treatment and secondary correction]. 61
4531700 1974
364
Syndrome of ocular and facial anomalies, telecanthus, and deafness. 61
4626128 1972
365
Telecanthus--or dystopia? 61
5013256 1972
366
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. 61
5568616 1971
367
EPICANTHUS AND TELECANTHUS. 61
14199224 1964
368
EPICANTHUS AND TELECANTHUS. 61
14077771 1963
369
EPICANTHAL FOLDS AND THE PROBLEM OF TELECANTHUS. 61
14123160 1963

Variations for Telecanthus

ClinVar genetic disease variations for Telecanthus:

6 (showing 6, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
2 COL5A2 NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)SNV Likely pathogenic 523366 rs1553517323 2:189949930-189949930 2:189085204-189085204
3 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)deletion Likely pathogenic 523499 rs1554844486 10:76784742-76784745 10:75024984-75024987
4 46;XY;t(1;9;5)(compleX)dnTranslocation Likely pathogenic 267825
5 46;XX;t(6;15)(q23;q22)dnTranslocation Likely pathogenic 267867
6 46;XX;t(5;7)(q12.2;q21.2)matTranslocation Uncertain significance 268045

Expression for Telecanthus

Search GEO for disease gene expression data for Telecanthus.

Pathways for Telecanthus

GO Terms for Telecanthus

Cellular components related to Telecanthus according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.13 COL5A2 COL11A1 ADAMTS18
2 heterochromatin GO:0000792 8.62 SALL1 DDX6

Biological processes related to Telecanthus according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron differentiation GO:0045665 9.26 NOTCH3 DDX6
2 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.16 WDR35 FOXL2
3 collagen fibril organization GO:0030199 8.96 COL5A2 COL11A1
4 extracellular matrix organization GO:0030198 8.8 COL5A2 COL11A1 ADAMTS18

Molecular functions related to Telecanthus according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL5A2 COL11A1

Sources for Telecanthus

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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