ICD-11 MMS

20 Developmental anomalies

Multiple developmental anomalies or syndromes  (LD20-LD2Z)

LD24 Syndromes with skeletal anomalies as a major feature

LD24.G Syndromic craniosynostoses

LD24.G0 Pfeiffer syndrome

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


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.

exclusions

synonyms

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