Crouzon syndrome
Pronunciation: kroo-ZAHN SIN-drome
A genetic disorder causing craniosynostosis and characteristic facial features without limb involvement.
Full Definition
Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutations in the FGFR2 gene. It is characterized by premature fusion of cranial sutures leading to skull deformities, shallow eye sockets (exorbitism), and midface hypoplasia. Unlike other craniosynostosis syndromes, Crouzon syndrome typically does not involve limb abnormalities. Clinical features include prominent forehead, proptosis, hypertelorism, and potential airway obstruction. The condition may be associated with increased intracranial pressure and requires staged surgical correction including cranial vault reshaping and midface advancement.
Usage
Usage note: Capitalize as proper noun; distinguish from Crouzon-like syndromes in documentation.
In Context
- "The infant's Crouzon syndrome required early cranial vault expansion to prevent raised ICP." — Neurosurgical consultation
- "Genetic counseling was provided for the family history of Crouzon syndrome." — Clinical genetics note