Aarskog syndrome

Some people with Aarskog syndrome have congenital heart defects, an extra pair of ribs, webbing of the fingers, a short neck, an opening in the lip and/or mouth (cleft lip and/or palate), and eye abnormalities. These features are not as common in Aarskog syndrome.

Facial differences that can be seen in Aarskog syndrome include a round face, broad forehead, widely spaced eyes, eyelids that droop, downward slanting eyes, a small nose, and a widow's peak in the hair. Not all people with Aarskog syndrome have all of these features. Not all people with Aarskog syndrome have the same facial features. People who do not have Aarskog syndrome can have these facial differences as well.

There are some genital differences that can be seen in Aarskog syndrome. The scrotum can surround the base of the penis; this is called a 'shawl scrotum'. A shawl scrotum is the most common genital difference seen in males with Aarskog syndrome. Sometimes, one or both testicles do not move all the way into the scrotum and are located higher up. Others may have their urinary opening on the underside of the penis. Some males have what looks like a divided scrotum. Males who do not have Aarskog syndrome can have these genital differences as well.

Skeletal differences that can be seen in Aarskog syndrome include short stature, short hands and feet, short fingers (brachydactyly), pinky fingers that appear bent (clinodactyly), flexible finger joints, wide feet, flat feet, and a sunken chest (pectus excavatum). Spinal abnormalities are seen in about 50% of affected individuals. Spinal abnormalities can include fusion of the upper bones in the neck, incomplete closure of the bones towards the bottom of the spine, and underdevelopment of certain areas of the spine. Not all people with Aarskog syndrome have the same skeletal differences.

Birth size is often normal. People with Aarskog syndrome usually have mild to moderate short stature during childhood; this short stature is usually first noted around 3 years of age and is at or below the 3rd percentile on the growth curve. During puberty, which can be delayed, their growth tends to 'catch up'. Final height is around the 10th percentile on the growth curve.

Not all people with Aarskog syndrome have intellectual disability. Some people are of normal intelligence. Some people have mild intellectual disability and may need some extra help in school. In some rare instances, people have severe intellectual disability. It is not possible to know at birth if a child has intellectual disability of how severe it may be. For that reason, it is important for children known to have Aarskog syndrome to be followed closely by their pediatrician and a medical geneticists. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Most males with Aarskog syndrome have a 'shawl scrotum' where the scrotum surrounds the base of the penis. Short stature is also a 'clue' and usually becomes apparent around 3 years of age.

People with Aarskog syndrome are affected differently, and it is difficult to predict medical concerns at birth. Some people are more mildly affected and some people are more severely affected. Even people with Aarskog syndrome in the same family are affected differently.

Because people with Aarskog can have problems with their eyes, they should see an eye specialists called an opthalmologist. Some eye problems that may occur are farsightedness, crossing of the eyes and/or eye muscles that do not work properly.

People with Aarskog syndrome may have problems with their teeth. In addition, they may be born with a cleft lip (groove in the upper lip) and/or cleft palate (hole in the roof of the mouth) that will require surgery to correct. It is important to see a dentist to check for teeth problems.