DIGITOTALAR DYSMORPHISM

General Information (adopted from Orphanet):

Synonyms, Signs: ULNAR DRIFT, HEREDITARY
Number of Symptoms 8
OrphanetNr:
OMIM Id: 126050
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:0009465) Ulnar deviation of finger 48 / 7739
2
(HPO:0001838) Rocker bottom foot 85 / 7739
3
(HPO:0100490) Camptodactyly of finger 212 / 7739
4
(HPO:0004097) Deviation of finger 13 / 7739
5
(HPO:0003502) Mild short stature 19 / 7739
6
(OMIM) Variable moderate short stature 1 / 7739
7
(OMIM) Thumb adduction contraction 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sallis and Beighton (1972) described a new syndrome consisting of flexion deformity of the fingers and 'rocker-bottom' feet due to vertical talus. Fourteen persons in 5 generations were affected but no instance of male-to-male transmission was observed. ...