Definition of Aarskog syndrome:

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.

Causes, incidence, and risk factors:

Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).

Symptoms:

• Belly button that sticks out
• Bulge in the groin or scrotum (inguinal hernia)
• Delayed sexual maturation
• Delayed teeth
• Downward palpebral slant to eyes
• Hairline with a "widow's peak"
• Mildly sunken chest (pectus excavatum)
• Mild to moderate mental problems
• Mild to moderate short stature (which may not be obvious until the child is 1 - 3 years old)
• Poorly developed midportion of the face
• Rounded face
• "Shawl" scrotum, testicles that have not come down (undescended)
• Short fingers and toes with mild webbing
• Single crease in palm of hand
• Small, broad hands and feet with short fingers and curved-in fifth finger
• Small nose with nostrils tipped forward
• Top portion of the ear folded over slightly
• Wide groove above the upper lip, crease below the lower lip
• Wide-set eyes with droopy eyelids

Signs and tests:

• Genetic testing for mutations in the FGDY1 gene
• X-rays

Treatment:

Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.

Support Groups:

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at www.magicfoundation.org.

Expectations (prognosis):

Some people may have mild degrees of mental slowness, but affected children usually have good social skills. Some males may have problems with fertility.

Complications:

• Cystic changes in the brain
• Difficulty growing in the first year of life
• Poorly aligned teeth
• Seizures
• Undescended testicle

Calling your health care provider:

Call your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your doctor thinks you or your child may have Aarskog syndrome.

Prevention:

Genetic testing may be available for persons with a family history of the condition or a known mutation of the gene.