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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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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

  1. Caudal regression syndrome. Genetics Home Reference. January 2012; Accessed 9/25/2012.