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Achondroplasia

Background

Achondroplasia is a rare genetic condition affecting bone growth. It is one of the most common causes of restricted growth with disproportionate short stature.

Achondroplasia literally means 'no cartilage growth', but in reality it refers to reduced bone formation at the 'growth plate' (a section of cartilage at either end of the bone, responsible for growth). This results in shortened limbs. The tissues around the limbs are not affected and continue to grow leading to bulky arms and legs. Growth charts designed specifically for children with Achondroplasia can be used to monitor growth. Achondroplasia is mainly a physical condition with affected people generally having a normal range of intelligence.

Many practical difficulties can be overcome with a little imagination and there is no reason why someone with Achondroplasia should not participate fully in society. It is important that the person themselves is able to find their own limits and boundaries and that these are not imposed by society.

What are the symptoms? View What are the symptoms?

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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