ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 — Syndromes with skeletal anomalies as a major feature
LD24.G — Syndromic craniosynostoses
LD24.G2 — Apert syndrome

ICD-11 LD24.G2 — Apert syndrome

Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. 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, vertebral fusion. Mental deficits in 30%.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Syndromic craniosynostoses #18787