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 that is passed from mothers to male children.

Risk Factors

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

Those at risk of inheriting Aarskog syndrome are male children of:

• Mothers who do not have the disorder, but who carry the gene for it

Symptoms

The main symptoms of Aarskog syndrome are:

• Disproportionately short stature

• Abnormalities of the head and face, including:

• • Rounded face

• • Wide-set eyes

• • Slightly slanted eyes

• • Drooping eyelids

• • Small nose

• • Front facing nostrils

• • Mid-portion of the face is underdeveloped

• • Wide groove above the upper lip

• • Crease below the lower lip

• • Folding of the top portion of the ear

• • Delayed teeth growth

• • In some cases, cleft lip or palate

Other symptoms may include:

• A malformed scrotum

• Undescended testicles

• Small, wide hands and feet

• Short fingers and toes

• In some cases, mild webbing of fingers and toes

• Abnormalities of the sternum

• Protruding navel

• Inguinal hernias

• Ligament problems, resulting in hyperextension of the knees

• Mild mental deficiencies (in about one-third of those affected)

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam. 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

Conditions that may be treated with surgery include:

• Inguinal hernia

• Cleft lip or palate

• Undescended testicles

Orthodontics

In some cases, orthodontic treatment may help certain facial and dental abnormalities caused by the disorder.

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.

RESOURCES:

International Birth Defects Information Systems
http://www.ibis-birthdefects.org

National Organization for Rare Disorders, Inc.
http://www.rarediseases.org

References:

Emory and Rimoin’s, Principal and Practice of Medical Genetics, 3rd ed. Churchill Livingstone; 1997.

Isolation, characterization and mapping of mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue. Gene. 2000 Jan 25.

National Organization for Rare Disorders website. Available at: http://www.rarediseases.org.

US National Library of Medicine website. Available at: http://www.nlm.nih.gov/.