Caudal regression sequence

What causes caudal regression syndrome?

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

Diabetes in a pregnant woman (maternal diabetes) is a known risk factor for CRS. 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.

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. 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.

Last updated on 05-01-20

Does caudal regression syndrome cause learning disabilities or intellectual disability?

No. People with caudal regression syndrome usually have normal intelligence.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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 on 05-01-20

Do children with caudal regression syndrome commonly have blue feet?

We are not aware of reports in the medical literature that describe blue feet (acrocyanosis) as a symptom in children with caudal regression syndrome.

A bluish discoloration of the skin is called cyanosis. When cyanosis affects the extremities (the hands and feet), it is referred to as acrocyanosis. Acrocyanosis is due to reduced oxyhemoglobin (hemoglobin that carries oxygen to tissues in the body). In other words, there is a decreased amount of oxygen delivered to the affected body part(s). Reasons for this condition may include some pulmonary and cardiac (heart) conditions, causing oxygenation problems; and/or local tissue oxygenation problems. Acrocyanosis is not infrequent in people with major neurological deficits, especially those with muscle function loss or paralysis.

While acrocyanosis is usually a benign condition without any serious complication, some types can be serious and require treatment. Furthermore, an accurate diagnosis is important, as symptoms of the condition may overlap with those of other conditions. Therefore, it is recommended that discoloration of the skin (especially when an underlying condition is present) be discussed with a healthcare provider.

Last updated on 05-01-20

What is caudal regression syndrome?

Caudal regression syndrome is a disorder that impairs the development of the lower (caudal) half of the body. It may affect the lower back (including the spinal cord), limbs, genitourinary tract, and the gastrointestinal tract. The specific features and severity of the disorder vary among affected people. Caudal regression syndrome may have different causes in different people, and is likely caused by a combination of genetic and environmental factors. Maternal diabetes is a major risk factor for the disorder. Most cases are sporadic or are associated with maternal diabetes. Management is supportive and may include surgery. The prognosis is poor; some newborns with severe cases do not survive the neonatal period. Those that survive infancy usually have normal cognitive function.

Last updated on 05-01-20

What is the long-term outlook for people with caudal regression syndrome?

The long-term outlook (prognosis) for people with caudal regression syndrome depends on the specific features and severity of the condition in each affected person.

Very severely affected newborns may not survive due to cardiac (heart), renal, and/or respiratory complications. In others, the vital systems may be unaffected or minimally affected. Those that survive typically have normal intelligence, with neuromuscular deficits of the lower limbs and sphincters (muscles that control the passage of urine and bowel movements). Secondary neurogenic bladder, leading to progressive renal damage and deterioration of renal function, remains a concern. Therefore, extensive and long-term follow-up of urologic issues is needed.

Last updated on 05-01-20

Name: Spina Bifida Association 4590 MacArthur Boulevard, NW
Washington , DC, 20007, United States
Phone: 202-944-3285 Toll Free: 800-621-3141 Fax : 202-944-3295 Email: Url:
Name: International Sacral Agenesis/Caudal Regression Association iSACRA PO Box 2722
Springfield, VA, 22152, United States
Phone: +1-631-629-5277 Email: Url:

Connect with other users with Caudal regression sequence on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App