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Caudal regression syndrome is a rare medical condition that causes the lower portion of the spine to develop abnormally during the fetal stage of pregnancy. Symptoms of caudal regression syndrome range from mild to severe and vary widely from patient to patient. If only a small portion of the lower spine is missing, there may be few symptoms. Others may experience partial paralysis or may even be missing some of the ribs. Treatment depends on the severity of the condition and may include physical therapy, the use of supportive devices, or surgical intervention.
As caudal regression syndrome is such a rare condition, most doctors will spend an entire career only reading about it in medical literature, never actually seeing a patient who suffers from this type of birth defect. This can make it difficult for parents to find a doctor who has any personal knowledge about the condition if they have a child born with caudal regression syndrome. Fortunately, there are no cognitive impairments associated with this birth defect, so most physicians are adequately qualified to treat the physical symptoms that develop and will put together a team of specialists who can work together to treat any individualized impairments.
In the most minor forms of caudal regression syndrome, only a small portion of the tailbone is missing. This does not typically involve any symptoms, and the child usually is able to function normally. In the most severe cases, partial paralysis may occur, and bowel or bladder function may be impaired. The calves and thighs may appear to be webbed, or the legs may be extraordinarily small and fused into a bent position. Some children with this condition are born with oddly shaped kidneys, or one kidney may be missing completely.
Treatment for caudal regression syndrome is extremely individualized, with the primary goal aimed at helping the patient move as independently as possible. Kidney malformation is not usually significant, as most people can live normal lives with one functioning kidney. In milder cases, supportive devices such as braces or crutches can provide independent movement, although a wheelchair may be needed in some of the more severe cases. If extreme abnormalities are present or if there is a significant amount of pain or neurological issues, surgical intervention may become a necessary part of the treatment plan. Physical and occupational therapy may be helpful in helping the patient develop new ways of performing ordinary tasks so that the maximum amount of independence can be achieved.