Pfeiffer syndrome
Pfeiffer syndrome
Definition
Pfeiffer 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.
Also known as acrocephalosyndactyly type 5, acrocephalosyndactyly type V, ACS5, Pfeiffer syndrome, type V Acrocephalosyndactyly — per MONDO