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Polydactyly, postaxial, type A9(PAPA9)

MedGen UID:
1648428
Concept ID:
C4748721
Congenital Abnormality
Synonyms: PAPA9; POLYDACTYLY, POSTAXIAL, TYPE A9
 
Gene (location): CIBAR1 (8q22.1)
 
Monarch Initiative: MONDO:0032603
OMIM®: 618219

Definition

Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability (Schrauwen et al., 2018). [from OMIM]

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.

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