![]() ![]() NORD has a separate report on sirenomelia. However, recently many researchers have indicated that sirenomelia is a similar, but distinct, disorder. Some sources in the medical literature classify a condition called sirenomelia as the most severe form of caudal regression syndrome. Both environmental and genetic factors are suspected to play a role in the development of the disorder. The exact cause of caudal regression syndrome is unknown. Additional anomalies of the gastrointestinal tract, kidneys, heart, respiratory system, upper limbs and upper portions of the spine can also occur. Abnormalities of the lower spine can cause a variety of additional complications including joint contractures, clubfeet and disruption or damage of the end of the spinal cord may occur, potentially causing urinary incontinence. More severe malformations may occur in some people. A wide range of abnormalities may potentially occur in infants with caudal regression syndrome including abnormal development (agenesis) of the sacrum and coccyx and abnormalities of the lumbar spine. At the end of the sacrum is the tailbone (coccyx). The sacrum consists of five vertebrae fused together. A triangularly shaped bony structure called the sacrum joins the lumbar portion of spine to the pelvis. The spinal column is generally broken down into three segments – the cervical spine, consisting of the vertebrae just below the skull the thoracic spine, consisting of the vertebrae in the chest region and the lumbar spine, consisting of the vertebrae of the lower back. The spine consists of many small bones (vertebrae) that collectively form the spinal column. Stay Informed With NORD’s Email NewsletterĬaudal regression syndrome is a broad term for a rare complex disorder characterized by abnormal development of the lower (caudal) end of the spine.Find a Rare Disease Patient Organization.Ensure Affordability of Prescription Drugs Under the Inflation Reduction Act.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community.
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