Definition: Caudal regression syndrome (CDS), or caudal dysplasia, is a congenital malformation characterized by various degrees of developmental failure involving legs, lumbar, sacral and coccygeal vertebra, and corresponding segments of spinal cord due to defect in neuralisation. Other congenital anomalies such as gastrointestinal, genito-urinary or congenital heart disease may be present. Some authors consider sirenomelia to be an extreme form of caudal regression syndrome (CRS), but they can be two distinct entities.

The exact etiology of this syndrome is unclear and maternal diabetes, genetic factors, teratogens and vascular anomalies altering blood flow have been hypothesized to play a role in its pathogenesis. The embryological origin is believed to be a failure of formation of the most distal part of the notochord that will then influence on one side the development of neural and vertebral structure of the lower spine and on the other the development of the cloacal-derived structures. Maternal diabetes mellitus is considered to be an important predisposing factor for both caudal regression syndrome and sirenomelia.

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