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Symptoms

Characteristics & Symptoms of an Achondroplastic Person 

Prognosis 

Some facial features of an of achondroplastic person include:

  • a disproportionately large head    (Genetics Home Reference, 2014)

  • a prominent forehead     (Genetics Home Reference, 2014)

  • a depressed nasal bridge    (Genetics Home Reference, 2014)

 

Some feautures of the body include:

  • short arms and legs, especially the uppers arms and the thighs (Genetics Home Reference, 2014)

  • bowed legs (Genetics Home Reference, 2014)

  • obesity (Kivi, 2012)

  • decreased muscle tone (Kaneshiro, 2013)

  • a defined spine curvature that causes the buttocks to protrude (Parikh, 2014)

  • short statures (Genetics Home Reference, 2014)

    • male average height 131 cm (4 feet 4 inches)

    • female average height 124 cm (4 feet 1 inch)

 

Some symptoms achondroplastic people can experience include:

  •  walking difficulties due to bowed legs, decreased muscle tone, and an abnormally curved spine (Genetics Home Reference, 2014)

  • ear infections due to the narrow ear canals (Kivi, 2012)

  • breathing difficulties (Genetics Home Reference, 2014)

  • Spinal stenosis, the narrowing of the spinal column, which in turn pinches the spinal cord (Genetics Home Reference, 2014)

    • this leads to weakness in the legs, pain and numbness (Genetics Home Reference, 2014)

    • in serious cases this leads to paralyzation (Genetics Home Reference, 2014)

  • hydrocephalus, a build up of fluid in the brain, which can lead to brain abnormalities (Genetics Home Reference, 2014)

 

 

 

 

Achondroplasia isn't a deadly disorder. It is only lethal when one inherits the abnormal gene from both parents. This combination causes death in infancy. (Kaneshiro, 2013) 

 

For all age groups affected by achondroplasia, the mortality rate is increased by a factor of 2.27. (Parikh, 2014)

  • in children younger than 4 years, death is most often caused by brain stem compressions and breathing difficulties

  • in people aged 5-24 years , nerve and respiratory problems cause most deaths

  • in persons aged 25-54, cardiovascular problems are the most frequent cause of death

 

But, most people with achondroplasia still live normal life spans. (Kivi, 2012) They only need to worry about high contact sports and other rough activities because of their underdeveloped bones and small stature.

 

 

Twin brothers, one suffering with achondroplasia

A comparison of a normal spinal canal to a spinal canal affected by spinal stenosis

An achondroplastic couple and their family

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