LD24.G2

ICD-11 MMS 2026-01

Apert syndrome

Description

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%.

Index terms

  • Apert syndrome

Exclusions from above levels

  • LD20.1 – Craniotelencephalic dysplasia
  • LD27.0Y – Sensenbrenner syndrome
  • LD28.0Y – Shprintzen-Goldberg craniosynostosis syndrome
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  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD24.G0 – Pfeiffer syndrome
  • LD24.G1 – Crouzon disease
  • LD24.GY – Other specified syndromic craniosynostoses
  • LD24.GZ – Syndromic craniosynostoses, unspecified

Foundation entity

Apert syndrome – http://id.who.int/icd/entity/1962779847

Part of: LD24.G: Syndromic craniosynostoses › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies