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Inherited Disorders and Birth Defects

Is it Aarskog syndrome

09/13/2007

Question:

My son has a single crease on each palm, he also has a lot of the symptoms of Aarskog syndrome: wide set eyes with droopy eyelids, widows peak, small nose, small hands and feet. Socially he is advanced, he`s 2 now, but something seems not right that I can`t pinpoint. Health visitor has never commented and he`s my 3rd child. Does it sound like Aarskog?

Answer:

I cannot tell you if your son has Aarskog syndrome, but, the features you describe are some of the ones that are found in Aarskog syndrome. However, all of the features you describe can also be seen in people without Aarskog. It is only when you see a number of those features together that you might consider that there maybe an underlying reason for these findings.

Features seen in Aarskog syndrome include being somewhat short, have a roundish face with eyes that are often widely spaced apart. The eyes may also slant downward some or have ptosis (droopy eyelids). There may be a widow’s peak and small upturned nose. The fingers and toes may be short; there may be single palmer creases and occasionally there can be other problems such as undescended testes, an unusual shape to the scrotum or dental problems. Most of the time boys with Aarskog syndrome have normal intelligence, but some can have mental retardation, learning disabilities or be hyperactive.

Aarskog syndrome is a genetic disorder that is inherited in an X-linked recessive pattern. That means that the gene that causes Aarskog (called FGD1) is located on the X chromosome. It is more commonly seen in boys and mothers can be carriers.

Because you feel that something is “not right” and you have noticed these features in your son, I would recommend that you speak to a geneticist or genetic counselor to discuss these findings in detail since they would have the greatest expertise about Aarskog syndrome. You can ask your doctor for a referral or you can locate a genetic counselor through the National Society of Genetic Counselors Resource Center at the website below.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University