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Aarskog syndrome

Synonyms
AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER; Aarskog Scott syndrome; Aarskog disease; Aarskog-Scott syndrome, X-linked; FGDY

Summary

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported. [from MedlinePlus Genetics]

Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAS, FGDY, MRXS16, ZFYVE3, FGD1
    Summary: FYVE, RhoGEF and PH domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • EuroGentest, 2011
    Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Molecular resources

Consumer resources

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