Telecanthus - hypertelorism - strabismus - pes cavus

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 3293
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
3
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
4
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
5
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
6
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
7
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
8
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
9
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
10
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
11
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
12
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: