ICD-11 code : LD24.G2;
Preferred Label : Apert syndrome;
ICD-11 definition : Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2
gene and characterized by premature closure of coronal suture and a later onset of
pansysostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus
II-IV (fingers and toes). High incidence of midface hypoplasia with orbital- and facial
stenosis, cleft palate, verterbral fusion. Mental deficits in 30%.;
Origin ID : 1962779847;
Currated CISMeF NLP mapping
ICD-10 Mapping
Validated automatic mappings to NTBT
Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2
gene and characterized by premature closure of coronal suture and a later onset of
pansysostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus
II-IV (fingers and toes). High incidence of midface hypoplasia with orbital- and facial
stenosis, cleft palate, verterbral fusion. Mental deficits in 30%.