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Diseases

Genetic and Rare Diseases Information Center (GARD)

Caudal regression syndrome


Other Names for this Disease
  • Caudal dysplasia
  • Sacral agenesis syndrome
  • Caudal regression sequence
  • Sacral regression syndrome
  • Sacral agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

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

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1] 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.[2]
Last updated: 9/9/2015

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. Affected areas of the body may include the lower back, limbs, the genitourinary tract, and the gastrointestinal tract.

The bones of the lower spine are often abnormally shaped or missing, and the corresponding sections of the spinal cord are also abnormal or missing. Affected people can have scoliosis or other abnormalities of the spine. Spinal abnormalities may affect the chest, which can lead to breathing problems.

Some affected people have small hip bones with a limited range of motion. The buttocks may be flat and dimpled. The leg bones are often underdeveloped. In some people, the legs are bent with the knees pointing outward and the feet tucked underneath the hips. Other features affecting the limbs may include clubfeet, calcaneovalgus, and/or decreased sensation in the lower limbs.

Abnormalities of the genitourinary tract are extremely varied. There may be malformations of the kidneys or absence of a kidney, or kidneys that are fused together (horseshoe kidney). Kidney abnormalities can lead to urinary tract infections and progressive kidney failure. There may also be abnormalities of the bladder, or damage to the nerves that control bladder function. Affected males may have hypospadia (the urethra opening on the underside of the penis) or undescended testes. Affected females may have an abnormal connection between the rectum and vagina. In severe cases, an affected person may have no genitalia (genital agenesis).

Gastrointestinal features may include malrotation of the large intestine, an obstruction of the anal opening, and/or inguinal hernias. Constipation and loss of bladder or bowel control are common.[1]
Last updated: 9/9/2015

Does caudal regression syndrome cause learning disabilities or mental retardation?

No. People with caudal regression syndrome usually have normal intelligence.[3]
Last updated: 2/16/2010

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.[2] 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.[4]
Last updated: 9/9/2015

References
Other Names for this Disease
  • Caudal dysplasia
  • Sacral agenesis syndrome
  • Caudal regression sequence
  • Sacral regression syndrome
  • Sacral agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.