POLYDACTYLY, POSTAXIAL, TYPE A5

General Information (adopted from Orphanet):

Synonyms, Signs: PAPA5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 263450
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
2
(HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
3
(HPO:0009701) Metacarpal synostosis 4 / 7739
4
(HPO:0001162) Postaxial hand polydactyly 119 / 7739
5
(HPO:0010554) Cutaneous finger syndactyly rare [HPO:skoehler] 39 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Cutaneous syndactyly of toes 2 and 3 (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Briard and Kaplan (1982) reported an inbred kindred in which 3 females and 2 males in 2 sibships had postaxial polydactyly and minor syndactyly. The proposita was described as having significant cutaneous syndactyly involving the interdigital spaces to ...
Molecular genetics OMIM - Exclusion Studies

In a consanguineous Pakistani family segregating autosomal recessive postaxial polydactyly mapping to chromosome 13q13.3-q21, Umm-e-Kalsoom et al. (2012) sequenced the coding region and exon-intron borders of 10 candidate genes, including CHM1 (605147), TSC22D1 ...