Aarskog syndrome

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

 

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