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Genetic and Rare Diseases Information Center (GARD)

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Caudal regression syndrome

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


Caudal regression syndrome is a rare birth defect that impairs the development of the lower (caudal) half of the body.[1] The condition may affect the lower back (including the spinal cord) and limbs, the genitourinary tract, and the gastrointestinal tract.[1] The severity of this condition varies among affected individuals. The cause of caudal regression syndrome is not known, but it may be related to maternal diabetes, genetic factors, and blood blockages (vascular hypoperfusion).[2][3][4]


References

  1. Caudal regression syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome. Accessed September 25, 2012.
  2. Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care. 2009 Apr.
  3. Bohring A. Caudal Regression Syndrome. National Organization for Rare Disorders: Guide to Rare Disorders. Philadelphia, PA: Lippincott Wiliams & Wilkins; 2003.
  4. Samartzis D, Shen FH. Caudal regression syndrome. Ann Acad Med Singapore. 2008 May.
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General Information

  • Genetics Home Reference (GHR) contains information on Caudal regression syndrome. Click on the link to go to GHR and review the information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Caudal regression syndrome. Click on the link to go to OMIM and review these resources.

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