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Genetic and Rare Diseases Information Center (GARD)

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Coffin-Lowry syndrome

Other Names for this Disease
  • CLS
  • 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.[1]
Last updated: 7/23/2010


  1. Coffin-Lowry syndrome. Genetics Home Reference. January 2008; Accessed 4/28/2010.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.