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Achondroplasia

What are the symptoms?

People with Achondroplasia have a range of characteristics including:

  • A near normal trunk length with shorter arms and legs;
  • A large head with prominent forehead and flattened bridge of the nose;
  • An increased curvature of the lower spine (lumbar lordosis);
  • Bowing of the lower legs;
  • Possible crowded teeth;
  • Short, broad feet and hands with separation between middle and ring fingers (the 'trident' hand);
  • Flexible joints.

Babies with Achondroplasia may develop motor skills and mobility more slowly than normal because of the combination of a heavier head and shorter arms and legs, but ultimately development should be within the expected normal range.

View Background Background  |  How is it diagnosed? View How is it diagnosed?

Medical text written March 2002 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK based on information written by Dr W Christian. Last updated August 2006 by Dr W Christian, Paediatric Specialist Registrar, Bristol Royal Hospital for Children, Bristol, UK.

 

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