Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is an inherited condition that affects the shape and structure of the head and face. It is a craniosynostosis syndrome, which means that one or more of the skull bones fuse earlier than normal in infancy, leading to an abnormal head shape. People with this condition may have facial asymmetry along with other features such as droopy eyelids (ptosis), misaligned eyes (strabismus), and small ears with a prominent crus. There are other less common manifestations associated with this syndrome.

Common signs of Saethre-Chotzen syndrome include an abnormal head shape due to early skull bone fusion, facial asymmetry, ptosis (droopy eyelids), strabismus (misaligned eyes), and small ears with a prominent crus. Additional features might be present, but these are some of the key symptoms described.

Saethre-Chotzen syndrome is inherited and is caused by changes in certain genes, including FGFR2 and TWIST1. These genetic changes affect the development of the skull and face during early growth.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.