Rare Hematology News

Disease Profile

Tethered cord syndrome

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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X-linked
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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Occult spinal dysraphism sequence; Tethered spinal cord syndrome; Segmental vertebral anomalies;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. In some cases, symptoms may be present at birth (congenital), while others may not experience symptoms until later in adulthood. Features of the condition may include foot and spinal abnormalities; weakness in the legs; loss of sensation (feeling) in the lower limbs; lower back pain; scoliosis; and urinary incontinence. Infants and children with congenital tethered cord syndrome may also have tufts of hair, dimples, skin discoloration, or benign fatty tumors on the lower back. Tethered cord syndrome occurs when tissue attachments limit the movement of the spinal cord within the spinal column. In some cases, it may be the result of improper growth of the neural tube during fetal development, which is closely linked to spina bifida. Other potential causes include narrowing of the spinal column (with age), spinal cord injury, tumors, and infection. Treatment varies based on the signs and symptoms present in each person and the severity of the condition but may include surgery and medications to manage pain.[1][2]

Learn more

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

  • 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.
  • 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 Tethered cord syndrome. Click on the link to view a sample search on this topic.

References

  1. NINDS Tethered Spinal Cord Syndrome Information Page. National Institute of Neurological Disorders and Stroke. September 2012; https://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm.
  2. Tethered Cord Syndrome. NORD. 2010; https://rarediseases.org/rare-diseases/tethered-cord-syndrome/.