**Aarskog syndrome most often shows up as short stature, widely spaced eyes and other facial features, short broad hands with very flexible joints, and genital differences such as a shawl scrotum or undescended testicles.**
The condition is usually caused by changes in the FGD1 gene and is inherited in an X-linked pattern, so boys tend to have the full picture while girls who carry the change often have only mild features such as slightly wider spaced eyes or short fingers. Height is usually normal at birth, and slowed growth becomes noticeable in early childhood before a growth spurt in the teen years brings many people closer to the lower end of the adult range. Most children have normal intelligence, though some have mild learning difficulties or attention problems. Dental crowding, delayed tooth eruption, and repeat ear infections are common practical issues. Tracking your child's height on a growth chart at every checkup is the single most useful habit, since a falling growth curve is what usually prompts testing.
The signs to know
Common questions
What are the symptoms of Aarskog syndrome?
Aarskog syndrome, also called Aarskog-Scott syndrome, affects growth, the face, the hands and feet, and the genitals. Common signs include short stature that becomes clear in early childhood, widely spaced eyes, drooping eyelids, a small nose with forward-facing nostrils, a wide groove above the lip, and a widow's peak hairline. Hands are often short and broad with curved fifth fingers, single palm creases, and very flexible joints. In boys, the scrotum may wrap around the base of the penis, and undescended testicles or an inguinal hernia can occur. Some children have mild learning or attention difficulties. A geneticist confirms the diagnosis with an exam, family history, and FGD1 gene testing.