Apert syndrome

MONDO:0007041

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: ACS1, Apert syndrome, acrocephalosyndactyly type 1, acrocephalosyndactyly type I, type I Acrocephalosyndactyly, ACS 1, ACS 2, Apert-Crouzon disease

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