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Postaxial polydactyly type A

Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [from HPO]

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Disease or Syndrome

Postaxial polydactyly type A1

Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other loci for autosomal dominant postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21, PAPA3 (607324) on chromosome 19p13, and PAPA4 (608562) on chromosome 7q22. An autosomal recessive form of postaxial polydactyly, PAPA5 (263450), has been mapped to chromosome 13q13. [from OMIM]

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Concept ID:
Disease or Syndrome

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