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.G0 — Pfeiffer syndrome

ICD-11 LD24.G0 — Pfeiffer syndrome

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.

The diagnosis includes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Syndromic craniosynostoses #18787