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Aarskog syndrome - Symptom

Alternative Names

Facial-digital-genital syndrome

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 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

Signs and tests:

  • Genetic testing for mutations in the FGDY1 gene
  • X-rays
  • Reviewed last on: 5/17/2010
  • A.D.A.M. Editorial Team: David Zieve, MD, MHA, David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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