Pfeiffer syndrome
Pronunciation: FYE-fer SIN-drome
A craniosynostosis syndrome characterized by premature fusion of skull sutures, broad thumbs and great toes, and distinctive facial features.
Full Definition
Pfeiffer syndrome is a rare genetic disorder caused by mutations in the FGFR1 or FGFR2 genes, resulting in craniosynostosis and characteristic limb malformations. The condition is classified into three types based on severity, with Type I being the mildest and most common form. Affected individuals typically present with turribrachycephaly (tall, broad skull), maxillary hypoplasia, and broad, deviated thumbs and great toes. Surgical management requires a multidisciplinary approach involving neurosurgery for cranial vault reconstruction and plastic surgery for facial advancement procedures and hand corrections. The timing of interventions is critical, with cranial surgeries typically performed in infancy to prevent increased intracranial pressure, while facial and limb corrections may be staged throughout childhood.
Usage
Usage note: Always specify the type classification when documenting Pfeiffer syndrome cases.
In Context
- "The infant was diagnosed with Pfeiffer syndrome Type I and scheduled for early cranial vault remodeling." — Consultation note
- "Genetic testing confirmed Pfeiffer syndrome with an FGFR2 mutation, requiring coordinated craniofacial care." — Medical genetics report