Saethre-Chotzen Syndrome

Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome is a genetic disorder characterised by the premature fusion of skull bones, leading to abnormal head and face shape. Individuals with Saethre-Chotzen syndrome may have ptosis, facial asymmetry, and limb abnormalities. The condition is typically caused by mutations in the TWIST1 gene and is inherited in an autosomal dominant pattern.