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Pfeiffer syndrome
rarePfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
- Identifiers
- MONDO:0007043 OMIM:101600Orphanet:710
- Part of
- Acrocephalopolysyndactyly
- Also known as
- acrocephalosyndactyly type 5 · acrocephalosyndactyly type V · ACS5 · Noack syndrome · Pfeiffer type acrocephalosyndactyly
Subtypes
Projects
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