Print friendly version
Other Names for this Disease
- Coffin syndrome
- Mental retardation with osteocartilaginous abnormalities
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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 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,
Last updated: 7/23/2010
- Coffin-Lowry syndrome. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome. Accessed 4/28/2010.
- Genetics Home Reference (GHR) contains information on Coffin-Lowry syndrome. This website is maintained by the National Library of Medicine.
- 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.
In Depth Information
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.