This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Caudal regression sequence (CRS) affects the development of the lower (caudal) half of the body. It can impact the development of the lower back, spinal cord, and lower limbs. The kidneys, bladder, digestive tract, and genitalia may also be affected. CRS occurs during fetal development and is present at birth. The features and severity vary from person to person. In some cases, CRS is severe and can be life-threatening. In other cases, people with CRS may have problems with bowel and bladder control and be unable to walk. CRS is not known to affect the development of the brain and intelligence is generally average. The cause of CRS is unknown, and is thought to be due to a combination of genetic and environmental factors. Maternal diabetes, exposure to retinoic acid, and disorders of blood flow are thought to increase the chance for a woman to have a baby with CRS, but most babies with CRS are born to women without any known risk factor. CRS is diagnosed based on the features. Other conditions may need to be excluded before a diagnosis of CRS can be made. Treatment is focused on managing the symptoms and usually includes surgery, physical therapy, and devices to help with sitting and walking.
For more information, visit GARD.