If a person with Sakati syndrome were to have children, the altered gene for the disorder may be transmitted as an autosomal dominant trait. Although the exact reason for such a mutation remains unclear, some researchers suggest that advanced parental age may be a contributing factor. It is believed that the syndrome may be caused by a new or sporadic, dominant genetic change (mutation). The exact cause of Sakati syndrome is not fully understood. Intelligence is usually within normal limits. In addition, both the legs and arms are shorter than normal.Īdditional symptoms associated with this disorder may include teeth that are crowded together, an underdeveloped upper jaw bone (maxillary hypoplasia), jaws that project forward (prognathism), a short neck, a low hairline, absence of hair (alopecia), and congenital heart disease. Abnormalities of the legs are also present, including bowed thigh bones (femurs) abnormally shaped, displaced calf bones (fibulas) and underdeveloped shin bones (hypoplastic tibias). Sakati syndrome is also characterized by several deformities of the hands and feet, including abnormally short fingers (brachydactyly), unusually broad thumbs and big toes, webbed toes (syndactyly), and more than the normal number of fingers and/or toes (polydactyly). Affected individuals also have several unusual facial characteristics including a flat, abnormally small face protruding eyes an abnormally wide space between the eyes (ocular hypertelorism) an elongated nose large, malformed (dysplastic) and low-set ears and a prominent forehead. As a result, the head appears long, narrow, and pointed at the top (acrocephaly). In Sakati syndrome, the fibrous joints between the bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing an affected infant’s head to grow upward at an accelerated rate. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community.
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