It is possible that the main title of the report Sirenomelia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason (sporadically).
Some sources in the medical literature classify sirenomelia as the most severe form of caudal regression syndrome, a complex developmental disorder. However, recently many researchers have indicated that sirenomelia is a similar, but distinct, disorder. NORD has a separate report on caudal regression syndrome.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Fetal Hope Foundation
9786 South Holland Street
Littleton, CO 80127
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
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Last Updated: 6/12/2012
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