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Scalp defects-postaxial polydactyly syndrome

Disease definition

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.

ORPHA:1003

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • OMIM: 181250
  • UMLS: C1867021
  • MeSH: C536622
  • GARD: 241
  • MedDRA: -
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