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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pseudoachondroplasia


Other Names for this Disease
  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
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Your Question

Our grandson was diagnosed recently with this disease and I am wondering if you could send me information on it. As his grandmother, I would like to know what are the health risks down the road for him and how we can help him live with this disease. 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the outlook for people with pseudoachondroplasia?

Among people with pseudoachondroplasia, the average height of an adult male is 3 feet, 11 inches and the average height of an adult female is 3 feet, 9 inches. Some individuals develop abnormal curvatures of the spine (scoliosis and/or lordosis) during childhood that can persist into adulthood.[1]

People with achondroplasia often develop joint pain early in life, particularly in the hips or knees. The joints deteriorate over time, and about half of people with pseudoachondroplasia will need a joint replacement surgery during adulthood. Because of the effect this condition has on the joints, it is recommended that people with pseudoachondroplasia avoid activities that place a lot of stress and strain on the joints.[2]

To find out more about the outlook for people with pseudoachondroplasia, we recommend that you contact Little People of America.
Last updated: 10/30/2012

References