Caudal Regression Syndrome

Caudal regression syndrome is a broad term for a rare and complex condition characterized by abnormal development of the lower (caudal) end of the spine. Infants with caudal regression syndrome can develop a variety of abnormalities, including abnormal development of the sacrum and coccyx (agenesis) and abnormalities of the lumbar spine. In some cases, more serious malformations can occur. Abnormalities of the lower spine can lead to a variety of complications, including joint contractures, clubfoot, destruction or damage to the ends of the spinal cord, and can lead to urinary incontinence. Additional abnormalities of the gastrointestinal tract, kidneys, heart, respiratory system, upper extremities, and upper spine may also occur. The exact cause of caudal regression syndrome is unknown. Both environmental and genetic factors are suspected to play a role in disease development.