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Items: 4

1.

Heart defect - tongue hamartoma - polysyndactyly syndrome

A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. [from ORDO]

MedGen UID:
341804
Concept ID:
C1857587
Disease or Syndrome
2.

Polydactyly, postaxial, type a10

Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed (Ullah et al., 2019). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. [from OMIM]

MedGen UID:
1676955
Concept ID:
C5193129
Disease or Syndrome
3.

Scalp defects-postaxial polydactyly syndrome

A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985. [from ORDO]

MedGen UID:
401140
Concept ID:
C1867021
Disease or Syndrome
4.

Postaxial polydactyly type A

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

MedGen UID:
854350
Concept ID:
C3887487
Disease or Syndrome
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