Saethre-chotzen syndrome

Saethre-Chotzen syndrome is one variant in a group of rare disorders known as acrocephalosyndactyly. Saethre-Chotzen syndrome is a relatively mild form of acrocephalosyndactyly with a variable pattern of craniofacial, digital, and bone abnormalities. It is also known as acrocephalosyndactyly Type III (ACS III), Chotzen syndrome, and dysostosis craniofacialis with hypertelorism. Saethre-Chotzen syndrome is usually found in several generations of a family. It is an inherited disorder; however, the features can be minor, and the syndrome therefore may remain undiagnosed. It is an autosomal disorder caused by a change or mutation in only one copy of a gene from one biological parent. Therefore, a parent with Saethre-Chotzen syndrome has a 50% chance of passing it on to a child. The altered gene is located on Chromosome 7.


 


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