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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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE
Genes Chromosomes Cancer 2005 Jan;42(1):82-6. doi: 10.1002/gcc.20100. PMID: 15390181
Thumb/hallux duplication and preaxial polydactyly type I.
Orioli IM, Castilla EE
Am J Med Genet 1999 Jan 29;82(3):219-24. PMID: 10215544

Clinical prediction guides

Thumb/hallux duplication and preaxial polydactyly type I.
Orioli IM, Castilla EE
Am J Med Genet 1999 Jan 29;82(3):219-24. PMID: 10215544

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed

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