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Diseases

Genetic and Rare Diseases Information Center (GARD)

Coffin-Lowry syndrome


Other Names for this Disease
  • Mental retardation with osteocartilaginous abnormalities
  • CLS
  • Coffin syndrome
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Treatment

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How might Coffin-Lowry be treated?

No specific treatment for Coffin-Lowry exist. Proper management of patients with CLS, includes surveillance by performing regular hearing, dental, and vision tests; annual heart examinations; and periodic monitoring for kyphoscoliosis. Medications such as valproate, clonzapam or selective serotonin uptake inhibitors might be prescribed for drop episodes. Surgery may be performed for skeletal deformities.[1]

A GeneReviews on Coffin-Lowry syndrome has been published and includes information regarding medical management and surveillance. Click on the link to learn more.
Last updated: 4/29/2010

References
  1. Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Coffin-Lowry syndrome. European Journal of Human Genetics. 2009;


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Other Names for this Disease
  • Mental retardation with osteocartilaginous abnormalities
  • CLS
  • Coffin syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.