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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
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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]
Last updated: 9/25/2012


  1. Caudal regression syndrome. Genetics Home Reference. January 2012; Accessed 9/25/2012.
  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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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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.

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