Pfeiffer syndrome
Pronunciation: FY-fer SIN-drome
A genetic disorder causing craniosynostosis, broad thumbs, and syndactyly.
Full Definition
Pfeiffer syndrome is an autosomal dominant genetic disorder characterized by craniosynostosis (premature fusion of skull sutures), broad thumbs and great toes, and partial syndactyly (webbing) of fingers and toes. The condition is caused by mutations in the FGFR1 or FGFR2 genes and is classified into three types based on severity. Type I is the mildest form with normal intelligence, while Types II and III involve more severe cranial abnormalities and may include neurological complications. Treatment typically involves staged surgical procedures to address craniosynostosis and extremity deformities.
Usage
Usage note: Always capitalize as a proper noun; specify type (I, II, or III) when known.
In Context
- "Genetic testing confirmed Pfeiffer syndrome Type I with FGFR2 mutation." — Genetic counseling report
- "The patient's Pfeiffer syndrome required multidisciplinary management including craniofacial surgery." — Treatment planning document