National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chiari Malformations 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.
Chiari malformations are a group of complex brain abnormalities that affect the area in lower posterior skull where the brain and spinal cord connect. The underlying anatomy of Chiari malformations is thought to be present at birth (congenital), although in many cases they may not become clinically apparent until adulthood. In extremely rare cases, a Chiari malformation may be acquired during life. The exact cause of Chiari malformations are not known, but often the cavity near the base of the skull (posterior fossa) is narrow and abnormally small in relation to the size of the cerebellum, which this portion of the skull encloses. Researchers believe that in some cases the small posterior fossa may cause the developing brain, specifically the cerebellum and the brainstem, to be pushed downward. Part of the cerebellum (known as the cerebellar tonsils) may protrude (herniate) through the foramen magnum, which is the normal opening found in the occipital bone at the base of the skull. The tonsils may thus interfere with the flow of cerebrospinal fluid (CSF) to and from the skull and spinal canal, potentially leading to accumulation of cerebral spinal fluid in the subarachnoid spaces of the brain and spine. A Chiari malformation can also cause pressure on the brain and produce hydrocephalus (pressure due to excessive cerebrospinal fluid accumulation in the brain) and the spinal cord, potentially causing a wide variety of symptoms. In fact, no two cases of Chiari malformation are exactly alike and the associated symptoms are highly variable. The severity of Chiari malformations can vary dramatically as well. In some cases, affected individuals may not develop any symptoms (asymptomatic); in others, severe, potentially debilitating or life-threatening symptoms can develop.
Traditionally, Chiari malformations have been defined and classified by how much of the cerebellar tonsils protrude through the foramen magnum. A diagnosis of a Chiari malformation usually signifies that the cerebellar tonsils protrude below the foramen magnum (often cited as at least 5 millimeters, though this is controversial). However, researchers have determined that the length of tonsil descent in a Chiari malformation does not always correspond to the severity of symptoms or to the response to treatment. In fact, some individuals are classified as having Chiari malformation type 0, in which there is minimal or no descent of the cerebellar tonsils. These individuals still have symptoms associated with a Chiari malformation, most likely due to abnormalities in the flow of cerebrospinal fluid within the skull and spinal canal. Research is ongoing to understand the complex, underlying mechanisms that cause Chiari malformations.
Chiari malformations are named for Hans Chiari, an Austrian pathologist, who first identified type I-III in 1891. Julius Arnold further expanded the definition of Chiari malformation type II and some medical sources began using the name Arnold-Chiari malformation. Nowadays, some medical sources use Arnold-Chiari malformation as a broad term for all forms. Chiari malformations have also been known as congenital tonsillar herniation, tonsillar ectopia or tonsillar descent.
American Syringomyelia & Chiari Alliance Project
P.O. Box 1586
Longview, TX 75606-1586
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Spina Bifida Association of America
4590 MacArthur Boulevard NW
Washington, DC 20007-4226
4340 East West Highway Ste 950
Bethesda, MD 20814
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Canadian Syringomyelia Network
69 Penny Crescent
Ontario, L3P 5X7
Hydrocephalus Support Group, Inc.
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
World Arnold Chiari Malformation Association
31 Newtown Woods Road
Newtown Square, PA 19073
Christopher S. Burton Syringomyelia Foundation, Inc.
P.O. Box 100335
Fort Lauderdale, FL 33310-0335
320 Osprey Court
Wexford, PA 15090
Chiari & Syringomyelia Foundation
29 Crest Loop
Melville, NY 11747
For a Complete Report
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 3/5/2014
Copyright 1986, 1995, 2002, 2005, 2011, 2014 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.