LD24.G0

ICD-11 MMS 2026-01

Pfeiffer syndrome

Description

Pfeiffer syndrome (associated with mutations in the FGFR1 and 2 gene) is a syndromic form of craniosynostosis characterised by the association of craniosynostosis. Often pansynostosis. Severe midface hypoplasia. Broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows.

Index terms

  • Pfeiffer syndrome
  • Pfeiffer syndrome type 1
  • Pfeiffer syndrome type 2
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  • Pfeiffer syndrome type 3

Excludes

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.G1 – Crouzon disease
  • LD24.G2 – Apert syndrome
  • LD24.GY – Other specified syndromic craniosynostoses
  • LD24.GZ – Syndromic craniosynostoses, unspecified

Foundation entity

Pfeiffer syndrome – http://id.who.int/icd/entity/1075159878

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