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Apert syndrome

Disease definition

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

ORPHA:87

  • Synonym(s):
    • ACS1
    • Acrocephalosyndactyly type 1
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 101200
  • UMLS: C0001193  C1510455
  • MeSH: D000168
  • GARD: 5833
  • MedDRA: 10002943

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