Saethre-Chotzen syndrome belongs to a group of rare genetic disorders known as acrocephalosyndactyly disorders and is one of the most common forms of craniosynostosis (premature fusion of cranial sutures) in humans. Clinical features of Saethre-Chotzen syndrome include acrocephalosyndactyly most commonly affecting the coronal suture, dysmorphic facial features (e.g., facial asymmetry, hypertelorism and maxillary hypoplasia), low frontal hairline, brachydactyly and cutaneous syndactyly. Additional physical findings can include tear duct stenosis, vertebral fusion, and mild short stature.
Saethre-Chotzen syndrome is inherited as an autosomal dominant trait with a high penetrance and variable expression. Although point mutations or deletions in TWIST1 gene is known to be associated with Saethre-Chotzen syndrome, some patients with overlapping phenotypes have been found with mutations in FGFR3 gene and FGFR2 gene.