Aarskog Syndrome by Rick Alan

En Español (Spanish Version)

Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

Aarskog syndrome is an extremely rare genetic disorder. This syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected.

Causes

Aarskog syndrome is an inherited disorder. It is caused by a gene mutation on the X chromosome. It is passed from mothers to male children.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. This disorder mainly affects males.

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done. The diagnosis of Aarskog syndrome is usually based on facial characteristics. The diagnosis can be confirmed by x-rays of the face and skull.

Treatment

There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed, as well. Researchers have located abnormalities in the FGD1 gene in people with this syndrome, and genetic testing for mutations in this gene may be available.

Treatment may include:

Surgery

Orthodontics

In some cases, orthodontic treatment may help certain facial and dental abnormalities.

Supportive Treatment

Supportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and supportive treatment.

Prevention

There is no known way to prevent Aarskog syndrome. If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.