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Acrodysostosis

Acrodysostosis is a disorder marked by abnormally small hands and feet, facial changes, and mental retardation.

Symptoms of Acrodysostosis

  • mild to moderate growth deficiency
  • mental deficiency in approximately 80% of affected children
  • short head, measured front to back (brachycephaly)
  • small, broad, upturned nose with flat nasal bridge
  • protruding jaw
  • frequent middle ear infections
  • short arms and legs with deformities of the hands and feet
  • may have other abnormalities of the skin, genitals, teeth, and skeleton (sometimes)
  • 2/3 of patients have hearing deficit

 

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