Polydactyly of a biphalangeal thumb

General Information (adopted from Orphanet):

Synonyms, Signs: FROMONT ANOMALY, INCLUDED
THUMB POLYDACTYLY THENAR HYPOPLASIA, INCLUDED
PPD1
Preaxial polydactyly type 1
Number of Symptoms 4
OrphanetNr: 93339
OMIM Id: 174400
ICD-10: Q69.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Preaxial polydactyly of fingers
 -Preaxial polydactyly of fingers

Symptom Information: Sort by abundance 

1
(HPO:0100258) Preaxial polydactyly 39 / 7739
2
(HPO:0001177) Preaxial hand polydactyly 59 / 7739
3
(HPO:0005895) Radial deviation of thumb terminal phalanx 3 / 7739
4
(OMIM) Hypoplasia of thumb musculature 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb ...