Triphalangeal thumb - polysyndactyly syndrome

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
TPT-PS syndrome
Number of Symptoms 17
OrphanetNr: 2950
OMIM Id: 174500
ICD-10: Q74.8
UMLs: C1969369
MeSH: C536563
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: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
2
(HPO:0001841) Preaxial foot polydactyly Occasional [Orphanet] common [HPO] 18178630 IBIS 24 / 7739
3
(HPO:0009606) Complete duplication of distal phalanx of the thumb 3 / 7739
4
(HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
5
(HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] hallmark [HPO] 18178630 IBIS 59 / 7739
6
(HPO:0009942) Duplication of thumb phalanx hallmark [HPO:sdoelken] 2 / 7739
7
(HPO:0010066) Duplication of phalanx of hallux common [HPO:sdoelken] 9 / 7739
8
(HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
9
(HPO:0009611) Bifid distal phalanx of the thumb Frequent [Orphanet] 15 / 7739
10
(HPO:0001159) Syndactyly frequent [HPO] 18178630 IBIS 140 / 7739
11
(HPO:0001830) Postaxial foot polydactyly Occasional [Orphanet] frequent [HPO] 18178630 IBIS 37 / 7739
12
(HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] typical [HPO] 18178630 IBIS 119 / 7739
13
(HPO:0100258) Preaxial polydactyly 39 / 7739
14
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(HPO:0005866) Opposable triphalangeal thumb hallmark [HPO] 5 / 7739
17
(HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 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 ...