MAIN MENU
QUICK LINKS
CONNECT WITH US

Button

Aarskog syndrome

  • Definition
    • Aarskog syndrome is a disease that affects a person's height, muscles, skeleton, genitals, and appearance. It is passed down through families (inherited).

  • 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
    • Symptoms of this condition include:

      • Belly button that sticks out
      • Bulge in the groin or scrotum
      • Delayed sexual maturity
      • Delayed teeth
      • Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the outer to inner corner of the eye)
      • Hairline with a "widow's peak"
      • Mildly sunken chest
      • Mild to moderate mental problems
      • Mild to moderate short height which may not be obvious until the child is 1 to 3 years old
      • Poorly developed middle section of the face
      • Rounded face
      • Scrotum surrounds the penis (shawl scrotum)
      • 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
      • Testicles that have not come down (undescended)
      • 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
    • These tests may be done:

      • Genetic testing for mutations in the FGD1 gene
      • X-rays
  • Treatment
    • Moving the teeth may be done to treat some of the abnormal facial features a person with Aarskog syndrome may have.

  • Support Groups
  • Outlook (Prognosis)
    • Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.

  • Possible Complications
    • These complications can occur:

      • Changes in the brain
      • Difficulty growing in the first year of life
      • Poorly aligned teeth
      • Seizures
      • Undescended testicles
  • 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 provider thinks you or your child may have Aarskog syndrome.

  • Prevention
    • Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.

  • References
    • Jones KL, Jones MC, Del Campo M. Moderate short stature, facial and genital. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap D.