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CAUDAL REGRESSION SYNDROME

Caudal regression syndrome is a rare genetic disorder that affects the lower part of the body (including the spinal cord), limbs, as well as the genitourinary tract and gastrointestinal tract. Individuals with Caudal Regression Disorder may have misshapen or missing bones in their lower limbs. The bones of the lower spine or vertebrae are also affected and the sections of the spinal cord are also missing. Individuals with Caudal regression syndrome will have incomplete closure of the vertebrae around the spinal cord. Furthermore affected individuals may also be suffering from scoliosis, an abnormal curvature of the spine. These abnormalities in the spine will affect the chest, which will cause breathing problems in some individuals.

Caudal regression syndrome can also affect their hip bones resulting in limited range of motion. The buttocks can be flat and dimpled. The femurs or the upper leg bones are typically underdeveloped. Affected individuals may also have frog leg-like position, where the legs are bent and the knees are point out to the side of the body. The feet are tucked underneath the hips. Clubfeet or inward and upward-turning feet or calcaneovalgus where the feet may be turned outward and upward facing are additional signs of caudal regression syndrome. Additionally, some affected individuals may also experience decreased sensation in their lower limbs.

Genitourinary tracts abnormalities in caudal regression syndrome can vary widely. Symptoms can include:

  • Malformed kidneys
  • Unilateral renal agenesis or missing kidney/kidneys
  • Horseshoe kidney or fused together kidneys
  • Ureteral duplication or the duplication of the urine carrying tubes from the kidney to the bladder

The abnormalities in the kidney will often cause urinary tract infections and eventually chronic kidney failure.

The bladder is also affected by caudal regression syndrome. Symptoms include:

  • Bladder exstrophy or the protrusion of the bladder through the abdominal wall
  • Neurogenic bladder or the damage to the nerves in the bladder which results in difficulty in controlling the flow of urine.
  • In men, hypospadias (an opening of the urethra on the underside) of the penis is present
  • Cryptorchidism or undescended testes
  • In women, rectovaginal fistula or there is an abnormal connection between the vagina and the rectum is present
  • Genital agenesis or lack of development of the genitalia is present in worse cases.

The intestines of an affected individual may have the following symptoms:

  • Malrotation or abnormal twisting of the large intestine
  • Imperforate anus or there is an obstruction of the anal opening
  • Inguinal hernias or soft pouches in the lower abdomen
  • Other malformation of the gastrointestinal tract

To learn more about Caudal Regression Syndrome and its complications, please visit:
https://ghr.nlm.nih.gov
https://rarediseases.info.nih.gov
http://www.webmd.com

If you think you are suffering from Caudal Regression Syndrome you should seek medical assistance. You may also be entitled to Social Security Disability Benefits. The SSA considered Caudal Regression Syndrome as a medical condition that would make you eligible for SSDI and SSI. Social Security Administration (SSA) maintains a “Listing of Medical Impairments” (known as the blue book) that automatically qualify you for Social Security Disability Insurance (SSDI) or Supplemental Security Income (SSI).