Caudal Regression Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Caudal Regression Syndrome is not the name you expected.
Caudal regression syndrome is a broad term for a rare complex disorder characterized by abnormal development of the lower (caudal) end of the spine. The spine consists of many small bones (vertebrae) that collectively form the spinal column. 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. A triangularly-shaped bony structure called the sacrum joins the lumbar portion of spine to the pelvis. The sacrum consists of five vertebrae fused together. At the end of the sacrum is the tailbone (coccyx). 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. More severe malformations may occur in some cases. 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. Additional anomalies of the gastrointestinal tract, kidneys, heart, respiratory system, upper limbs and upper portions of the spine can also occur. The exact cause of caudal regression syndrome is unknown. Both environmental and genetic factors are suspected to play a role in the development of the disorder.
Some sources in the medical literature classify a condition called sirenomelia as the most severe form of caudal regression syndrome. However, recently many researchers have indicated that sirenomelia is a similar, but distinct, disorder. NORD has a separate report on sirenomelia.
American Association of Neurological Surgeons
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Birth Defect Research for Children, Inc.
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Fetal Hope Foundation
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- Littleton, CO 80127
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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NIH/National Institute of Neurological Disorders and Stroke
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 4/19/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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