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Hypochondroplasia

What are the symptoms?

To a lesser or greater degree, the features of HCH may include:

  • Short stature with an adult height in the range of 128 -151 cm (4 feet, 2 inches to 4 feet 11 inches);
  • Disproportionate arms and legs with short, broad hands and feet;
  • Macrocephaly (an enlarged head);
  • Limitation of elbow movement;
  • Lordosis (exaggerated curvature at the lower end of the spine);
  • Increased joint mobility;
  • Learning problems (it has not yet been determined whether this is in fact a feature of HCH).

View Background Background  |  What are the causes? View What are the causes?

Medical text written September 2004 by Contact a Family. Approved September 2004 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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