Pseudoachondroplasia

How is pseudoachondroplasia inherited?

Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Last updated on 05-01-20

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.

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.

To find out more about the outlook for people with pseudoachondroplasia, we recommend that you contact Little People of America.

Last updated on 05-01-20

Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: Little People UK P.O Box 1292 Peterborough
PE2 2NT
United Kingdom
Phone: 07925893398 Email: info@littlepeopleuk.org Url: https://littlepeopleuk.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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