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Polydactyly, postaxial, type a7(PAPA7)

MedGen UID:
1627079
Concept ID:
C4539976
Congenital Abnormality
Synonyms: PAPA7; POLYDACTYLY, POSTAXIAL, TYPE A7
 
Gene (location): IQCE (7p22.3)
 
Monarch Initiative: MONDO:0060550
OMIM®: 617642

Definition

Postaxial polydactyly type A7 (PAPA7) is an autosomal recessive disorder characterized by postaxial polydactyly and brachydactyly of the hands and/or feet. Features reported in some patients include syndactyly of the second and third digits of the feet, learning disabilities, and increased body weight (Umair et al., 2017; Estrada-Cuzcano et al., 2020). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. [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).
2-3 toe cutaneous syndactyly
MedGen UID:
98470
Concept ID:
C0432040
Congenital Abnormality
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.
Short fifth metatarsal
MedGen UID:
867287
Concept ID:
C4021649
Anatomical Abnormality
Short (hypoplastic) fifth metatarsal bone.

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