Rare Nephrology News
Disease Profile
Chiari malformation type 3
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)
Chiari type III malformation; Chiari malformation type III; Arnold Chiari malformation type III
Categories
Congenital and Genetic Diseases
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 | ||
| Areflexia of upper limbs | 0012046 | |
| Arnold-Chiari type I malformation | 0007099 | |
| 0000006 | ||
| Babinski sign | 0003487 | |
| Basilar impression | 0005758 | |
| Diplopia |
Double vision
|
0000651 |
|
Difficulty articulating speech
|
0001260 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Headache |
Headaches
|
0002315 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hyperacusis | 0010780 | |
| Limb muscle weakness |
Limb weakness
|
0003690 |
| Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
| Lower limb |
0002061 | |
| Neck pain | 0030833 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
| 0002650 | ||
| Small flat posterior fossa | 0005759 | |
| Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
| Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
| Unsteady gait |
Unsteady walk
|
0002317 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| Vertigo |
Dizzy spell
|
0002321 |
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
-
American Syringomyelia & Chiari Alliance Project (ASAP)
PO Box 1586
Longview, TX 75606-1586
Toll-free: 1-800-272-7282
Telephone: +1-903-236-7079
Fax: +1-903-757-7456
E-mail: info@ASAP.org
Website: https://asap.org/ -
Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF)
c/o Dorothy Poppe
29 Crest Loop
Staten Island, NY 10312
Telephone: +1-718-966-2593
Fax: +1-718-966-2593 (please call first)
E-mail: dpoppe@bobbyjonescsf.org
Website: https://bobbyjonescsf.org/ -
Worldwide Syringomyelia & Chiari Task Force Inc.
PO Box 491975
Lawrenceville, GA 30049
Telephone: +1-914-510-CURE (2873)
E-mail: wstfcure@wstfcure.org
Website: https://www.wstfcure.org
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
- The Bobby Jones Chiari & Syringomyelia Foundation offers information on Chiari malformation type 3
- 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.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Chiari malformation type 3. Click on the link to view a sample search on this topic.