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单词 Chotzen syndrome
释义

Chotzen syndrome

英语百科

Saethre–Chotzen syndrome

(重定向自Chotzen syndrome)
Cranial sutures viewed from top of head
SCS occurs when there is a mutation on chromosome 7 in the region 7p21
The hand of a 4-year-old boy with syndactyly
The hand of a patient with syndactyly of several digits.

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 birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.

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