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Saethre-Chotzen syndrome

Saethre-Chotzen syndrome
Classification & external resources
OMIM 101400
DiseasesDB 29331
MeSH D000168

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:

  1. synostosis of the coronal sutures of the skull resulting in characteristic faces including ptosis, facial asymmetry and small ears
  2. syndactyly of the fingers, particularly of the second and third digits
  3. Intelligence is usually normal. Some affected individuls may have mild to moderate mental retardation.


The incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births.

See also

  • Acrocephalosyndactylia
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.
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