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Diseases

Genetic and Rare Diseases Information Center (GARD)

Caudal regression syndrome


Other Names for this Disease
  • Caudal dysplasia
  • Sacral agenesis syndrome
  • Caudal regression sequence
  • Sacral regression syndrome
  • Sacral agenesis
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Overview

Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. It may affect the lower back (including the spinal cord), limbs, genitourinary tract, and the gastrointestinal tract. The specific features and severity of the disorder vary among affected people. Caudal regression syndrome may have different causes in different people, and is likely caused by a combination of genetic and environmental factors. Maternal diabetes is a major risk factor for the disorder.[1] Most cases are sporadic or are associated with maternal diabetes. Management is supportive and may include surgery. The prognosis is poor; some newborns with severe cases do not survive the neonatal period. Those that survive infancy usually have normal cognitive function.[2]
Last updated: 9/9/2015

References

  1. Caudal regression syndrome. Genetics Home Reference. August, 2015; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome.
  2. Sylvie Odent. Caudal regression sequence. Orphanet. April, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Caudal regression syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 Caudal regression syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Caudal dysplasia
  • Sacral agenesis syndrome
  • Caudal regression sequence
  • Sacral regression syndrome
  • Sacral agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.