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
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" (FGD1).

Symptoms
Belly button that sticks out
Bulge in the groin or scrotum (inguinal hernia)
Delayed sexual maturity
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 height (stature), which may not be obvious until the child is 1 - 3 years old
Poorly developed middle section of the face
Rounded face
"Shawl" scrotum, testicles that have not come down (undescended)
Short fingers and toes with mild webbing
Single crease in the palm of the 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

Exams and Tests
Genetic testing for changes (mutations) in the FGD1 gene
X-rays


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


Outlook (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.


Possible Complications
Changes in the brain
Difficulty growing in the first year of life
Poorly aligned teeth
Seizures
Undescended testicle


When to Contact a Medical Professional
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.

Alternative Names
Facial-digital-genital syndrome