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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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Cause

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What causes caudal regression syndrome?

Caudal regression syndrome (CRS) may have different causes in different people. In many cases, the cause is unclear.[1][2] It is thought to be a multifactorial disorder, which means that genetic and environmental factors likely interact to cause CRS.[2]

Diabetes in a pregnant woman (maternal diabetes) is a known risk factor for CRS.[2] Increased blood sugar levels and other associated metabolic problems may harm fetal development, increasing the chance to develop CRS. The risk is further increased if the mother's diabetes is poorly managed.[2]

Some researchers believe CRS may be caused by a disruption of mesoderm development in the fetus, which impairs normal formation of the skeleton, gastrointestinal system, and genitourinary system.[2] Others have suggested it may result from the presence of an abnormal artery in the abdomen, which may divert blood flow from the lower body areas of the developing fetus. It is unclear whether abnormal mesoderm development causes reduced blood flow, or whether reduced blood flow causes abnormal mesoderm development. Many scientists think that the cause of CRS is a combination of abnormal mesoderm development and decreased blood flow to the caudal (lower) areas of the developing fetus.[2]
Last updated: 9/10/2015

References
  1. Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care. April 2009; 9(2):61-69.
  2. Caudal regression syndrome. Genetics Home Reference. August, 2015; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome.


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.