Question:

My 12 year old daughter has recently undergone a routine physical examination. The nurse practioner asked if she had pain in her knees because she felt that her knee bone structure in both legs are larger than normal. She mentioned Aarskog Scott Syndrome. I did a little research with not much success. I did read that females can have this disorder with milder symptoms. Can you give me more information on this topic? Could it be possible that my daughter can be diagnosed with this just by examining the knee structure? Thank you,

Answer:

Aarskog syndrome is a rare genetic disorder that affects mainly boys, but there can be minor findings in girls when there is a positive family history. The major characteristics seen in males with the disorder include mild to moderate short stature, a rounded broad face with wide spaced eyes, occasional drooping of the eyelids and a widow`s peak. The fingers are usually short. Also in males, the scrotum has a somewhat unusual shape (shawl scrotum). The joints may be loose and hyper-extendable, but I do not know of the joints being enlarged. About a third of the males with Aarskog syndrome will have mild to moderate mental retardation. Hyperactivity is common. The diagnosis is a difficult one to make. A geneticist would have the most expertise in diagnosing the disorder. I certainly do not think that the disorder can be diagnosed based on the knee structure only. Since the question has been raised, I would recommend that you ask your doctor for a referral to a geneticist. You can also locate a genetics center near you through the NSGC Resource Center at the website below. 

For more information:

National Society of Genetic Counselors Resource Center

Response by:

Anne Matthews, R.N., Ph.D. Director, Genetic Counseling and Family Studies Center for Human Genetics School of Medicine Case Western Reserve University