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Pfeiffer syndrome

Disease definition

An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.


Classification level: Disorder
  • Synonym(s):
    • ACS5
    • Acrocephalosyndactyly type 5
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.0
  • OMIM: 101600
  • UMLS: C0220658  C0265303  C2931888
  • MeSH: C538582
  • GARD: 7380
  • MedDRA: -

Detailed information

Article for general public


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