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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.

Alternative Names

Facial-digital-genital syndrome

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.

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)

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 Profesional

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.

Updated: 10/29/2013

Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


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