Definition:
Saethre-Chotzen syndrome is an extremely rare congenital condition inherited via the autosomal dominant trait.
The most characteristic feature of this disease is caraniosynostosis, a symptom described as premature closure of 1 or more of the sutures between the bones of the skull, occurs.
Symptoms and Signs:
A classic presentation of Saethre-Chotzen syndrome is synostosis (osseous union) of the coronal sutures of the skull, leading to such distinctive features as ptosis (drooped eyelids), facial asymmetry, and small ears. Two or more fingers (often the second or third digits) are usually fused together (a condition known as syndactyly). In general, intelligence of affected individuals is normal. However, some patients may develop mild to moderate mental retardation.
Causes:
Saethre-Chotzen syndrome is a congenital disorder, autosomal dominant in pattern, caused by mutations in the TWIST transcription factor (basic-helix-loop-helix transcription factor). Saethre-Chotzen syndrome is very rare, occurring in only 1 in 25-50,000 live births.
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