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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

In a non-diabetic mother, what is the most common cause of this condition in a baby? Is there any evidence it can be caused by exposure to medication such as ciproxin?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes caudal regression syndrome?

In many cases, the underlying cause of caudal regression syndrome (CRS) remains unclear.[1] It is thought to be a multifactorial disorder, which means that multiple factors (genetic and environmental) likely interact to predispose an individual to being affected.[2]

Up to 22% of cases of CRS are associated with diabetes mellitus in the mother during pregnancy.[2][1] However, CRS also occurs in infants of non-diabetic mothers. There is ongoing research to identify other factors that may increase the risk of CRS, as well as the proportion of cases attributable to these factors.

Some researchers believe there is a disruption of mesoderm development in the fetus, which impairs the normal formation of parts 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 diverts blood flow away from the lower areas of the developing fetus.[2] It may also be caused by a combination of these.[2] Inconclusive studies have implicated that some teratogens may play a role in CRS.[1]

The varieties of malformations, the numerous organ systems involved, and the lack of presence of identical abnormalities in subsequent pregnancies have generally not supported the notion that there is a specific genetic cause of CRS.[1] However, one case of an affected girl with a mutation in the VANGL1 gene has been reported.[3]
Last updated: 9/28/2012

Is there evidence that caudal regression syndrome may be caused by fetal exposure to medications during pregnancy?

Sporadic, inconclusive studies have implicated that teratogens other than diabetes in the mother may play a role in caudal regression syndrome (CRS). Retinoic acid and minoxidil solution have been associated with CRS in infants of several non-diabetic women. Teratogenic agents in the form of drugs such as oral hypoglycemics (prescription medications used to control diabetes), estrogens, and progestins have been implicated as well, but they have not been proven to specifically cause the condition.[1]
Last updated: 9/28/2012

Does exposure to ciprofloxacin in pregnancy cause caudal regression syndrome?

To our knowledge there have not been any reports of caudal regression syndrome being caused by exposure to ciprofloxacin during pregnancy.
Last updated: 9/28/2012

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