Frequency
The frequency of caudal regression syndrome is unknown. It is estimated to occur in 1 to 2.5 in 100,000 newborns. This condition is much more common among infants whose parent has diabetes while pregnant, affecting an estimated 1 in 350 newborns in this group.
Causes
Caudal regression syndrome is a complex condition that may have different causes in different people. The condition is likely caused by the interaction of multiple genetic and environmental factors. One risk factor for the development of caudal regression syndrome is the presence of diabetes during pregnancy. It is thought that increased blood sugar (glucose) levels and other metabolic problems related to diabetes may have a harmful effect on a developing fetus, increasing the likelihood of developing caudal regression syndrome. The risks to the fetus are further increased if the diabetes is poorly managed. Researchers are trying to identify other factors that contribute to the development of this complex disorder.
Some researchers believe that a disruption of fetal development around day 28 of pregnancy causes caudal regression syndrome. The developmental problem is thought to affect the middle layer of embryonic tissue known as the mesoderm. Disruption of normal mesoderm development impairs normal formation of parts of the skeleton, gastrointestinal system, and genitourinary system.
Other researchers think that caudal regression syndrome is caused by the presence of an abnormal artery in the abdomen, which diverts blood flow away from the lower areas of the developing fetus. Decreased blood flow to these areas is thought to interfere with their development and lead to the signs and symptoms of caudal regression syndrome.
Some scientists believe that the abnormal development of the mesoderm reduces the blood flow, while other scientists believe that the reduced blood flow causes the abnormal mesoderm development. Many scientists think that the cause of caudal regression syndrome is a combination of abnormal mesoderm development and decreased blood flow to the caudal areas of the fetus.
Inheritance
Caudal regression syndrome occurs sporadically, which means it occurs in people with no history of the condition in their family. Multiple genetic and environmental factors likely affect the risk of developing this condition.
Other Names for This Condition
- Caudal dysgenesis syndrome
- Caudal dysplasia sequence
- Caudal regression sequence
- CRS
- Lumbo-sacral agenesis
- SA/CRS
- Sacral agenesis
- Sacral defect with anterior meningocele
Additional Information & Resources
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care. 2009 Apr;9(2):61-9; quiz 70-1. doi: 10.1097/ANC.0b013e31819de44f. Citation on PubMed
- Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007 Dec 15;143A(24):3175-84. doi: 10.1002/ajmg.a.32028. Citation on PubMed
- Hentschel J, Stierkorb E, Schneider G, Goedde S, Siemer S, Gortner L. Caudal regression sequence: vascular origin? J Perinatol. 2006 Jul;26(7):445-7. doi: 10.1038/sj.jp.7211534. Citation on PubMed
- Jeelani Y, Mosich GM, McComb JG. Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 2013 Sep;29(9):1451-7. doi: 10.1007/s00381-013-2119-3. Epub 2013 Sep 7. Citation on PubMed
- Thottungal AD, Charles AK, Dickinson JE, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 2010 Oct;152A(10):2578-87. doi: 10.1002/ajmg.a.33599. Citation on PubMed
- Torre M, Buffa P, Jasonni V, Cama A. Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. J Pediatr Surg. 2008 Mar;43(3):530-3. doi: 10.1016/j.jpedsurg.2007.10.036. Citation on PubMed
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