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Caudal Regression Syndrome

What is caudal regression syndrome?

Caudal regression syndrome is a rare disorder that impacts the lower half of the body, including the gastrointestinal tract, lower back, legs, and the genitourinary tract. The development of these areas is impaired, as the bones in the lower portion of the spine are misshapen or missing. 

1 to 2.5 newborns out of every 100,000 are impacted by this disorder, although it most commonly affects children who are born to mothers with diabetes. 

What are the symptoms of caudal regression syndrome?

Symptoms that impact the spinal cord include incomplete closure of the vertebrae, a sac filled with fluid that is covered by skin (this sac can but does not always contain part of the spinal cord), tufts of hair at the spine’s base, and scoliosis. The chest may be misshapen due to spinal cord issues, which in turn can lead to respiratory issues.

Other symptoms include limited range in the hips, which may be small, malformed kidneys, kidneys that have fused together, a missing kidney, two sets of the tubes that carry urine to the bladder, damage to the nerves in the bladder, and protrusion of the bladder. These symptoms often cause frequent UTIs, progressive kidney failure, and difficulty controlling the flow of urine. 

Genital abnormalities are a common symptom in both males and females. The large intestine can be twisted, and people also experience inguinal hernias, obstructions at the anal opening, malformations of the gastrointestinal tract, constipation, and loss of bladder control. 

What causes caudal regression syndrome?

Multiple issues can lead to caudal regression syndrome. The mother being affected by diabetes heightens a child’s chance of this disorder, but issues during pregnancy also cause this disorder. Medical professionals have named issues such as the disruption of fetal development on the 28th day of pregnancy, an abnormal artery, and issues with blood flow and the development of the mesoderm. 

How is caudal regression syndrome diagnosed?

A diagnosis is typically made before birth through the use of a prenatal ultrasound. An MRI and echocardiography are often used to assess any other physical abnormalities that are associated with caudal regression syndrome. 

What are the treatments for caudal regression syndrome?

Treatment is symptomatic. Surgery is often necessary, and urological symptoms are treated with anticholinergic drugs. Physical therapy and psychological services are often helpful as well. 

Where can I find out more about caudal regression syndrome?

Caudal Regression Syndrome Articles