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Pfeiffer syndrome

Disease definition

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.

ORPHA:710

  • Synonym(s):
    • ACS5
    • Acrocephalosyndactyly type 5
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 101600
  • UMLS: C2931888
  • MeSH: C538582
  • GARD: 7380
  • MedDRA: -

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