Aarskog Scott syndrome

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Aarskog Scott syndrome (pronounced: Aar-skog Scott sin-drome) is a rare genetic disorder characterized by specific facial, limb, and genital abnormalities. It is also known as Aarskog syndrome, Faciodigitogenital syndrome, Scott Aarskog syndrome and Faciogenital dysplasia.

Etymology

The syndrome is named after the Norwegian pediatrician and human geneticist Dagfinn Aarskog and the American medical geneticist Charles I. Scott Jr., who independently described the syndrome in the early 1970s.

Symptoms

The symptoms of Aarskog Scott syndrome can vary greatly among affected individuals. Common symptoms include facial abnormalities such as a rounded face, wide-set eyes (Hypertelorism), a small nose, and a widow's peak hairline. Limb abnormalities often include short stature (Dwarfism), short fingers and toes (Brachydactyly), and webbing or fusion between the second and third toes (Syndactyly). Genital abnormalities can include undescended testes (Cryptorchidism) in males and a shawl scrotum.

Causes

Aarskog Scott syndrome is caused by mutations in the FGD1 gene. This gene provides instructions for making a protein that helps regulate cell growth and division. The mutation disrupts the normal development of cells, leading to the characteristic features of the syndrome.

Diagnosis

Diagnosis of Aarskog Scott syndrome is based on a clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm a diagnosis.

Treatment

Treatment of Aarskog Scott syndrome is symptomatic and supportive. This may include surgery to correct physical abnormalities, hormone therapy to stimulate growth, and counseling to help with learning disabilities and socialization difficulties.

See also

External links

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