Sathre Chotzen Syndrome, also known as Acrocephalosyndactyly Type III, is a rare genetic disorder characterized by craniosynostosis, facial anomalies, and limb abnormalities. This syndrome is named after physicians David Saethre and Robert Chotzen, who first described its specific features in medical literature.
The main characteristic of Saethre Chotzen Syndrome is the premature fusion of certain skull bones, a condition called craniosynostosis. This results in an abnormal head shape, known as brachycephaly, where the skull is shorter and broader than normal. Additionally, individuals with this syndrome often present with various facial abnormalities, such as droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and a prominent forehead.
Limb anomalies are also common in Saethre Chotzen Syndrome. Individuals may exhibit syndactyly, a condition where certain fingers or toes fuse together. Moreover, they may have short fourth and fifth fingers, which are commonly referred to as "broad thumbs" and "brachydactyly", respectively.
Other features associated with this syndrome include hearing loss, dental abnormalities, and intellectual disability, although the severity and occurrence of these symptoms can vary widely among affected individuals.
Saethre Chotzen Syndrome is caused by mutations in the TWIST1 gene, which plays a crucial role in the development of bones and connective tissues. It follows an autosomal dominant pattern of inheritance, meaning that one copy of the mutated gene is sufficient to cause the syndrome.
Diagnosis of Saethre Chotzen Syndrome typically involves a comprehensive physical examination, assessment of medical history, and genetic testing. Management of the condition may include surgical intervention to correct skull and limb abnormalities, as
