Aarskog syndrome

Definition

Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies.

Causes

Aarskog syndrome is an X-linked recessive genetic disorder (although some studies show it could possibly be an X-linked dominant disorder), therefore, mainly males are affected, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called "faciogenital dysplasia" ( FGDY1) found on the X chromosome.

Symptoms

• mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
• possible delayed sexual maturation
• rounded face
• hairline has a "widow's peak"
• wide set eyes with droopy eyelids
• small nose with nostrils tipped forward
• underdeveloped mid-portion of the face
• wide groove above the upper lip, crease below the lower lip
• delayed eruption of teeth
• top portion of the ear folded over slightly
• small, broad hands and feet with short fingers and in-curving 5th finger
• short fingers and toes with mild webbing
• simian crease (single) in palm of hand
• protruding belly button
• inguinal hernias
• "shawl" scrotum, undescended testicles
• mild to moderate mental deficiency
• eyes have downward palpebral slant
• pectus excavatum (mildly sunken chest)

Exams and Tests

X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

Treatment

Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.

Support Groups

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

Outlook (Prognosis)

Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

Possible Complications

Some recent findings have included cystic changes in the brain and generalized seizures. There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.

When to Contact a Medical Professional

Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here. Seek genetic counseling if there is Aarskog syndrome in your family. Seek evaluation by a geneticist if your doctor thinks you or your child may have Aarskog syndrome.

Prevention

There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation.