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Pfeiffer syndrome

Orpha number ORPHA710
Synonym(s) ACS5
Acrocephalosyndactyly type 5
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS
  • C2931888
MeSH
  • C538582
MedDRA -
SNOMED CT
  • 70410008

Summary

Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations.


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Detailed information

Summary information
Review article
  • EN (2006)
Clinical genetics review
  • EN (2011)
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