Saethre-Chotzen syndrome
Pronunciation: SAY-ther-SHOT-zen SIN-drome
A genetic disorder featuring craniosynostosis, facial asymmetry, and limb abnormalities.
Full Definition
Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome caused by mutations in the TWIST1 gene. Clinical features include premature fusion of coronal sutures leading to brachycephaly, facial asymmetry, ptosis (drooping eyelids), and characteristic ear abnormalities. Limb features may include brachydactyly (short fingers), syndactyly, and clinodactyly. The syndrome shows variable expression, with some individuals having mild features while others require extensive surgical intervention. Intelligence is typically normal, distinguishing it from more severe craniosynostosis syndromes.
Usage
Usage note: Always hyphenate the syndrome name; capitalize as proper noun.
In Context
- "The patient's Saethre-Chotzen syndrome presented with unilateral coronal synostosis and ptosis." — Clinical phenotyping report
- "Family screening revealed variable expression of Saethre-Chotzen syndrome across generations." — Genetic assessment