Aarskog syndrome

Overview

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.

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  • 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

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    Links

    1. March of Dimes Birth Defects Foundation

      From: CheckOrphan

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    2. NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

      From: CheckOrphan

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    3. MAGIC Foundation for Children's Growth

      From: CheckOrphan

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    4. Children's Craniofacial Association

      From: CheckOrphan

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    5. Aarskog Syndrome Parents Support Group

      From: CheckOrphan

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