TRIPHALANGEAL THUMB, NONOPPOSABLE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 190600
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:0010442) Polydactyly 69 / 7739
2
(OMIM) Metacarpal of triphalangeal thumb has only a distal epiphysis 1 / 7739
3
(HPO:0001199) Triphalangeal thumb 56 / 7739
4
(OMIM) Nonopposable thumb 2 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Swanson and Brown (1962) described a family in which 30 persons in 5 generations had 5 triphalangeal digits of each hand and apparently lacked a true thumb. The 'thumb' could not be opposed. No associated internal malformations were ...