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Disease Profile

Split spinal cord malformation

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Diastematomyelia; SSCM; Diplomyelia;


Congenital and Genetic Diseases; Nervous System Diseases


Split spinal cord malformation (SSCM) is a rare form of spinal dysraphism in which a person is born with splitting, or duplication, of the spinal cord. It may be characterized by complete or incomplete division of the spinal cord, resulting in two 'hemicords.' There are two types of SSCM. In type I, each hemicord has a full protective covering (thecal sac) and they are separated by a bony structure, forming a double spinal canal. In type II, the two hemicords are surrounded by one thecal sac and there is a single spinal canal. While SSCM is present from birth, it may become apparent at any age and is more common in women than in men. Some people may not have symptoms, while others may have a tethered cord and/or various other spinal abnormalities. Symptoms vary and may include back pain, bladder dysfunction, and leg pain or weakness. SSCM is thought to be caused by abnormal formation of the notochord and neural tube (which ultimately form the brain and spinal cord) very early in embryonic development.[1][2] Treatment may include surgery for release of a tethered cord, and/or physical therapy for neurologic problems or pain.[2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
30%-79% of people have these symptoms
Generalized hirsutism
Excessive hairiness over body
Percent of people who have these symptoms is not available through HPO
Abnormality of the nervous system
Neurologic abnormalities
Neurological abnormality

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Autosomal recessive inheritance


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Organizations Supporting this Disease

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    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Split spinal cord malformation. Click on the link to view a sample search on this topic.


        1. Chaouki Khoury. Closed spinal dysraphism: Pathogenesis and types. UpToDate. Waltham, MA: UpToDate; November, 2015;
        2. Chaouki Khoury. Closed spinal dysraphism: Clinical manifestations, diagnosis, and management. UpToDate. Waltham, MA: UpToDate; November, 2015;
        3. Victor A. McKusick, Sonja A. Rasmussen. DIASTEMATOMYELIA. OMIM. October 5, 1999; https://www.omim.org/entry/222500.
        4. Ersahin Y, Kitis O, Oner K. Split cord malformation in two sisters. Pediatr Neurosurg. November, 2002; 37(5):240-244.
        5. Peter S. Harper. Central nervous system disorders. Practical Genetic Counselling. London: Arnold; 2003; 176.

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