Aarskog-Scott syndrome

Aarskog-Scott syndrome, also known as Aarskog syndrome, faciogenital dysplasia, or facio-digito-genital syndrome, is a rare genetic disorder primarily characterized by distinctive abnormalities of the face, limbs, and genitalia. It predominantly affects males, though females may show milder features. The condition is caused by mutations in the FGD1 gene located on the X chromosome, which encodes a protein involved in cell signaling and skeletal development. Key clinical features include short stature, a round face with a broad forehead, widely spaced eyes (hypertelorism), a small nose with anteverted nostrils, a long philtrum, and a widow's peak hairline. Hand abnormalities are common and include short broad hands, brachydactyly (short fingers), clinodactyly (curved fifth fingers), and interdigital webbing. A hallmark genital finding in males is the "shawl scrotum," in which scrotal tissue surrounds the base of the penis. Other features may include mild to moderate short stature, joint hypermobility, inguinal hernias, and undescended testes. Some individuals may have mild intellectual disability or attention difficulties, though cognitive function is often normal. There is no cure for Aarskog-Scott syndrome, and management is supportive and symptom-based. Growth hormone therapy may be considered for significant short stature, and surgical correction may be needed for cryptorchidism, inguinal hernias, or other structural anomalies. Orthodontic treatment may address dental abnormalities. Regular developmental assessments are recommended for children, and educational support may be beneficial for those with learning difficulties. Prognosis is generally favorable, with most affected individuals having a normal life expectancy.

Common questions about Aarskog-Scott syndrome