CIM11 LD24.G0
CIM-11 MMS (diagnostics, nouvelle classification OMS) — fichier du 2026-09-11
Pfeiffer syndrome
- chapitre
- 20 Developmental anomalies
- bloc
- Multiple developmental anomalies or syndromes
- definition
- 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.
- exclusions
- Pfeiffer disease
- type
- category
- navigateur oms (fr)
- https://icd.who.int/browse/2026-01/mms/fr#1075159878 ↗