Saethre-Chotzen Syndrome

Below you will find more information about Saethre-Chotzen Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Saethre-Chotzen Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Saethre-Chotzen Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Saethre-Chotzen Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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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