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Disease Profile
Spina bifida occulta
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.
#N/A
Age of onset
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ICD-10
#N/A
Inheritance
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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)
Occult spina bifida; Closed spina bifida
Categories
Nervous System Diseases
Summary
Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported.[1] SBO has an estimated prevalence of 12.4%.[2]
Symptoms
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:
HPO ID
|
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Absence of the sacrum | 0010305 | |
| Anencephaly | 0002323 | |
| Asymmetry of spinal facet joints | 0008482 | |
| 0000006 | ||
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 |
| Multiple lipomas |
Multiple fatty lumps
|
0001012 |
| Myelomeningocele | 0002475 | |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Spina bifida occulta | 0003298 | |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Hydrocephalus Canada
16 Four Seasons Place
Suite 111
Toronto, M9B 6E5 Canada
Toll-free: 800-387-1575
Telephone: 416-214-1056
Fax: 416-214-1446
E-mail: provincial@sbhao.on.ca
Website: https://www.hydrocephalus.ca
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
- Genetics Home Reference (GHR) contains information on Spina bifida occulta. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spina bifida occulta. Click on the link to view a sample search on this topic.
References
- Eubanks JD, Cheruvu VK. Prevalence of sacral spina bifida occulta and its relationship to age, sex, race, and the sacral table angle: an anatomic, osteologic study of three thousand one hundred specimens. Spine (Phila Pa 1976). 2009 Jul 1;34(15):1539-43; https://www.ncbi.nlm.nih.gov/pubmed/19564762. Accessed 9/27/2013.
- Fletcher JM, Brei TJ. Introduction: Spina bifida--a multidisciplinary perspective. Dev Disabil Res Rev. 2010;16(1):1-5; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046545/. Accessed 9/27/2013.