Saethre–Chotzen syndrome
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Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly).[2] Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention.[3] Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.[2]
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Saethre–Chotzen syndrome | |
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Pyrgocephalic woman with features indicative of Saethre-Chotzen syndrome | |
Specialty | Rheumatology |