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Saethre-Chotzen syndrome

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). more...

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It is an autosomal dominant disorder with the error being in the TWIST transcription factor.

Classic features include:

  1. synostosis of the coronal sutures of the skull resulting in characteristic facies including ptosis, facial asymmetry and small ears
  2. syndactyly of the fingers, particularly of the second and third digits
  3. mild to moderate mental retardation.

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

Read more at Wikipedia.org


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Polydactyly and syndactyly
Polydactyly and syndactyly are congenital irregularities of the hands and feet. Polydactyly is the occurrence of extra fingers or toes, and syndactyly is the webbing or fusing together of two or more
Craniosynostosis
Primary craniosynostosis, the premature closure of one or more cranial sutures, occurs in up to one in 2,500 births. Secondary causes of craniosynostosis ...

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