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Other Names for this Disease
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Spondyloepiphyseal dysplasia, pseudoachondroplastic
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Your QuestionHow do people inherit pseudoachondroplasia?
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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: 10/30/2012
- Pseudoachondroplasia. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed 10/30/2012.