what is apert syndrome

what is apert syndrome

1 year ago 66
Nature

Apert syndrome, also known as acrocephalosyndactyly, is a rare genetic disorder that affects the development of the skull, face, hands, and feet bones. It is caused by a genetic mutation that occurs early during pregnancy and is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. The key feature of Apert syndrome is the premature closure of the bones of the skull, which can lead to a misshapen head and face, as well as other skeletal abnormalities. Other symptoms may include vision problems, hearing loss, recurrent ear infections, and unusually heavy sweating. The severity of the symptoms can vary widely, even among individuals with the same genetic mutation. Apert syndrome is rare and occurs in 1 out of every 65,000 to 88,000 newborns. Although there is no cure for Apert syndrome, treatment may involve surgery to correct the skeletal abnormalities and improve the individuals quality of life.

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