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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

How do people inherit pseudoachondroplasia?

Our Answer

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

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.[1]
Last updated: 10/30/2012

References
Other Names for this Disease
  • PSACH
  • Pseudoachondroplastic dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
  • Spondyloepiphyseal dysplasia, pseudoachondroplastic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.