Apert syndrome
Apert syndrome
Definition
Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
Also known as acrocephalosyndactyly type 1, acrocephalosyndactyly type I, ACS1, Apert syndrome, type I Acrocephalosyndactyly — per MONDO