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Illustrated Health Encyclopedia
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Ency. home > Disease > A > Aarskog syndrome

Aarskog syndrome    See images

Overview | Symptoms | Treatment | Prevention

Symptoms

  • mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old
  • possible delayed sexual maturation
  • rounded face
  • hairline has a "widow's peak"
  • wideset eyes with droopy eyelids
  • small nose with nostrils tipped forward
  • underdeveloped mid-portion of the face
  • wide groove above the upper lip, crease below the lower lip
  • delayed eruption of teeth
  • top portion of the ear folded over slightly
  • small, broad hands and feet with short fingers and in-curving 5th finger
  • short fingers and toes with mild webbing
  • simian crease (single) in palm of hand
  • protruding umbilicus (navel)
  • inguinal hernias
  • "shawl" scrotum, undescended testicles
  • mild to moderate mental deficiency
  • downward palpebral slant - eye
  • pectus excavatum, mildly concave sternum

Signs and Tests

X-rays will reveal skeletal abnormalities.  Genetic testing may be available for mutations in the FGDY1 gene.

Ency. home > Disease > A > Aarskog syndrome

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