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Aarskog Syndrome

Definition


Q. What is Aarskog Syndrome?
Ans. 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.

Symptoms


Symptoms of Aarskog Syndrome
  • Belly button that sticks out
  • Bulge in the groin or scrotum (inguinal hernia)
  • Delayed sexual maturation
  • 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 stature which may not be obvious until the Child is 1 - 3 years old
  • Poorly developed midportion of the face
  • Rounded Face
  • "Shawl" scrotum, testicles that have not come down (undescended)
  • Short fingers and toes with mild webbing
  • Single crease in palm of hand
  • Small, broad hands and feet with short fingers and curved-in 5th 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

Causes


Causes of Aarskog Syndrome
Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).

Treatment


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


Prevention from Aarskog Syndrome
Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.


Possible Complications
  • Cystic Changes in the Brain
  • Difficulty Growing in the First Year of Life
  • Poorly Aligned Teeth
  • Seizures
  • Undescended Testicle

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