BROAD TERMINAL PHALANGES, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 602071
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010186) Broad distal phalanx of the toes 1 / 7739
2
(HPO:0009836) Broad distal phalanx of finger 8 / 7739
3
(OMIM) Broad terminal phalanges of fingers and toes 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pavone et al. (1997) described a family with 4 relatives demonstrating broad terminal phalanges of the fingers and toes. The family was ascertained through a proband with multiple congenital anomalies including cleft palate, bifid uvula, gingival hyperplasia, an ...