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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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Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
- Pseudoachondroplasia. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed October 30, 2012.
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- Genetics Home Reference (GHR) contains information on Pseudoachondroplasia. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudoachondroplasia. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pseudoachondroplasia. Click on the link to go to OMIM and review these resources.