Polydactyly of a triphalangeal thumb

General Information (adopted from Orphanet):

Synonyms, Signs: TPT, INCLUDED
TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED
TPT-PS SYNDROME, INCLUDED
TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED
POLYDACTYLY OF TRIPHALANGEAL THUMB
TRIPHALANGEAL THUMB, INCLUDED
PPD2
Preaxial polydactyly type 2
Number of Symptoms 4
OrphanetNr: 93336
OMIM Id: 174500
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:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0010066) Duplication of phalanx of hallux 9 / 7739
2
(HPO:0100258) Preaxial polydactyly 39 / 7739
3
(HPO:0009606) Complete duplication of distal phalanx of the thumb 3 / 7739
4
(HPO:0005866) Opposable triphalangeal thumb 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The thumb in this malformation is usually opposable and possesses a normal metacarpal. This form of polydactyly consists of duplication of the distal phalanx, giving a 'duck-bill' appearance. Reported families include the second in the paper by Haas ...
Molecular genetics OMIM Lettice et al. (2003) showed that chromosome 7q36-associated preaxial polydactyly II results from point mutations in an SHH (600725) regulatory element. SHH, normally expressed in the zone of polarizing activity (ZPA) posteriorly in the limb bud, is expressed ...