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Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). It is an autosomal dominant disorder with the error being in the TWIST transcription factor.
Additional recommended knowledge
Classic features include:
The incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Saethre-Chotzen_syndrome". A list of authors is available in Wikipedia.|