Aarskog Syndrome News and Information

Aarskog Syndrome News and Information

See below for updated news and information regarding Aarskog Syndrome including new research, treatments and advancements. 

Latest Aarskog Syndrome News

Aarskog syndrome is a very rare genetic disorder often marked by several conditions including stunted growth (may not be obvious until the child is about three years of age), broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability. 

Symptoms of this condition include:

  • Protruding Belly button
  • Bulge in the groin or scrotum
  • A delay in onset of 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)
  • Widow’s peak hairline
  • 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

Source: National Institutes of Health