Heart defect - tongue hamartoma - polysyndactyly syndrome- MedGen UID:
- 341804
- •Concept ID:
- C1857587
- •
- Disease or 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.
Scalp defects-postaxial polydactyly syndrome- MedGen UID:
- 401140
- •Concept ID:
- C1867021
- •
- Disease or 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.
Polydactyly, postaxial, type a10- MedGen UID:
- 1676955
- •Concept ID:
- C5193129
- •
- Disease or Syndrome
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.