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Apert syndrome
rareApert 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.
- Identifiers
- MONDO:0007041 OMIM:101200Orphanet:87
- Causal genes
- FGFR2
- Part of
- Acrocephalosyndactyly
- Also known as
- acrocephalo-syndactyly type 1 · acrocephalosyndactyly type 1 · acrocephalosyndactyly type I · ACS1 · syndactylic oxycephaly
Subtypes
Projects
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