What is Aarskog-Scott syndrome?

Aarskog-Scott syndrome is a genetic disorder that affects boys and involves physical abnormalities of the face, skeleton, genitals, and other parts of the body. It is characterized by facial features such as low set ears, widely spaced eyes, a broad-tipped nose, cleft lip and/or palate, and malformed or extra teeth. Affected individuals may also have short stature, skeletal abnormalities such as kyphoscoliosis or hip dysplasia, and genitourinary abnormalities such as an undescended testicle or hypospadias. Intellectual disability is variable but most people with Aarskog-Scott syndrome have normal intelligence. Other medical problems can include hearing loss, eye problems, kidney abnormalities, speech delays, gastrointestinal problems, sleep apnea, and recurrent respiratory infections. Treatment for individuals with Aarskog-Scott syndrome is multidisciplinary.