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Home > Medical Reference > Encyclopedia (English)

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Ask the Expert

Growth and Nutrition Experts’s Bio Image

Get answers to your child's growth, nutrition, and feeding behavior questions.

Growth and Nutrition Experts’s Bio | Q&A Archive

Note: This is for informational purposes only. Doctors cannot provide a diagnosis or individual treatment advice via e-mail. Please consult your physician about your specific health care concerns.

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Aarskog syndrome - Symptom

Symptoms:

  • 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

Signs and tests:

  • Genetic testing for mutations in the FGDY1 gene
  • X-rays
  • Reviewed last on: 2/5/2008
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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