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Sakati Syndrome

Sakati Syndrome Definition

Sakati syndrome encompasses a group of rare genetic diseases collectively known as Acrocephalopolysyndactyly or ACPS. Sakati syndrome, along with all known types of ACPS, is characterized by the premature closure of the cranial sutures (fibrous joints) between certain bones of the skull. This premature closure, known as craniosynostosis, leads to: acrocephaly (pointed appearance of the top of the head); syndactyly (webbing or fusion) of digits; and appearance of more than normal digits (polydactyly). In addition, Sakati syndrome is linked to defects in the bones of the legs, congenital heart defects, as well as other complications. The disease is speculated to develop as a consequence of a sporadic mutation that occurs randomly for unknown reasons.

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