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Diseases

Genetic and Rare Diseases Information Center (GARD)

Snyder-Robinson syndrome


Other Names for this Disease
  • X-linked mental retardation Snyder-Robinson type
  • SRS
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Overview

Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.[1]
Last updated: 10/7/2015

References

  1. Snyder-Robinson syndrome. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome. Accessed 10/7/2015.
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Basic Information

  • Genetics Home Reference contains information on Snyder-Robinson syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Snyder-Robinson syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • X-linked mental retardation Snyder-Robinson type
  • SRS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.