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Other Names for this Disease
- Coffin syndrome
- Mental retardation with osteocartilaginous abnormalities
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Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, other skeletal abnormalities, stimulus-induced drop episodes, intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.
- Coffin-Lowry syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome. Accessed April 28, 2010.
On this page
- Genetics Home Reference (GHR) contains information on Coffin-Lowry syndrome. Click on the link to go to GHR and review the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological 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 Coffin-Lowry syndrome. 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 Coffin-Lowry syndrome. Click on the link to go to OMIM and review these resources.