Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Coffin-Lowry syndrome


Other Names for this Disease

  • CLS
  • 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.

Overview

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

References

  1. Coffin-Lowry syndrome. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome. Accessed 4/28/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Coffin-Lowry syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Insurance Issues

Other Names for this Disease
  • CLS
  • 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.