Achondroplasia

People with achondroplasia are usually no taller than 145 cm, and often have short limbs. There is no real treatment for achondroplasia, although surgery may be considered, but in practice few patients opt for this decision.

Cause

Achondroplasia is caused by an abnormality in a gene responsible for growth. In children with achondroplasia the cartilage cells develop more slowly and do not create much bone, as a result the bones remain short.

Symptoms 

  • Normal length torso with short arms and legs.
  • Upper arms are shorter than the lower arms. 
  • Upper legs are shorter than the lower legs.
  • The pelvis is tilted forward, creating a curvature in the back so the stomach protrudes. Many people with achondroplasia have back problems.
  • Large head.
  • High and protruding forehead. 
  • Low placed nose.
  • Protruding lower jaw, the teeth may also be irregular.

Treatment 

There is no medical treatment for achondroplasia, although supportive therapies can help enormously with issues such as pain and discomfort.

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