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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
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Your Question

What is caudal regression syndrome? What kind of therapies can we get for a child with this condition?

Our Answer

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What is caudal regression syndrome?

Caudal regression syndrome is a rare birth defect that impairs the development of the lower (caudal) half of the body.[1] The condition may affect the lower back (including the spinal cord) and limbs, the genitourinary tract, and the gastrointestinal tract.[1] The severity of this condition varies among affected individuals. The cause of caudal regression syndrome is not known, but it may be related to maternal diabetes, genetic factors, and blood blockages (vascular hypoperfusion).[2][3][4]
Last updated: 9/25/2012

What are the signs and symptoms of caudal regression syndrome?

The signs and symptoms of caudal regression syndrome vary depending on the severity of the condition.

Some individuals have incomplete closure of the vertebrae around the spinal cord; a fluid-filled sac on the back covered by skin that may or may not contain part of the spinal cord; or tufts of hair at the base of the spine. Curvature of the spine (scoliosis) may also be present. The spinal abnormalities can affect the size and shape of the chest, which may cause breathing problems.

Individuals may have small hip bones and a flat and dimpled buttocks. The leg bones are often underdeveloped. Other features may include clubfeet or calcaneovalgus; decreased sensation in the lower limbs; and/or various abnormalities of the genitourinary tract. In severe cases, affected individuals may have a lack of development of the genitalia (genital agenesis). Gastrointestinal abnormalities may include abnormal twisting (malrotation) of the large intestine; an obstruction of the anal opening (imperforate anus); or inguinal hernias. Constipation and loss of bladder and bowel control are common.[1]
Last updated: 9/25/2012

Does caudal regression syndrome cause learning disabilities or mental retardation?

No. People with caudal regression syndrome usually have normal intelligence.[5]
Last updated: 2/16/2010

What is the prognosis for caudal regression syndrome?

The prognosis for children with caudal regression syndrome depends on the severity of the associated birth defects. In general, people with this syndrome often require urologic (urinary tract) and orthopedic (bone and joint) surgery. Affected individuals may develop neurogenic bladder, which can lead to kidney damage if not treated. People with caudal regression syndrome may also have spinal defects such as tethered cord, which can usually be corrected with surgery.[5]
Last updated: 2/16/2010

References
  • Caudal regression syndrome. Genetics Home Reference. January 2012; http://ghr.nlm.nih.gov/condition/caudal-regression-syndrome. Accessed 9/25/2012.
  • Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care. 2009 Apr;
  • Bohring A. Caudal Regression Syndrome. National Organization for Rare Disorders: Guide to Rare Disorders. Philadelphia, PA: Lippincott Wiliams & Wilkins; 2003;
  • Samartzis D, Shen FH. Caudal regression syndrome. Ann Acad Med Singapore. 2008 May;
  • Twining P, McHugo JM, Pilling DW. Textbook of Fetal Abnormalities. London: Churchill Livingstone; 2000;