Chiari malformations

Common Name(s)

Chiari malformations

Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Treatment may require surgery. Many patients with the more severe types of Chiari malformations who undergo surgery see a reduction in their symptoms and/or prolonged periods of relative stability, however paralysis is generally permanent despite surgery.

There are four types of Chiari malformations. The types tend to correspond with the degree of severity, with type 1 being the most common and least severe. Some people with type 1 have no symptoms and do not require treatment.

Chiari malformation type 1
Chiari malformation type 2
Chiari malformation type 3
Chiari malformation type 4

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chiari malformations" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chiari malformations" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chiari malformations" returned 10 free, full-text research articles on human participants. First 3 results:

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.
 

Author(s): Christina A Markunas, R Shane Tubbs, Roham Moftakhar, Allison E Ashley-Koch, Simon G Gregory, W Jerry Oakes, Marcy C Speer, Bermans J Iskandar

Journal: J Neurosurg Pediatr. 2012 Apr;9(4):372-8.

 

Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to identify families in whom CM-0 and ...

Last Updated: 2 Apr 2012

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Tapering of the cervical spinal canal in patients with Chiari I malformations.
 

Author(s): M Hirano, V Haughton, A Munoz del Rio

Journal: AJNR Am J Neuroradiol. 2012 Aug;33(7):1326-30.

 

Upper cervical spinal canal dimension may have a role in abnormal CSF dynamics in patients with Chiari I malformation. We attempted to measure spinal canal tapering from anteroposterior spinal canal dimensions in patients with Chiari I.

Last Updated: 15 Aug 2012

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Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management.
 

Author(s): Thomas H Milhorat, Misao Nishikawa, Roger W Kula, Yosef D Dlugacz

Journal: Acta Neurochir (Wien). 2010 Jul;152(7):1117-27.

 

The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology.

Last Updated: 18 Jun 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chiari malformations" returned 2 free, full-text review articles on human participants. First 3 results:

Congenital Chiari malformations.
 

Author(s): Prasad Vannemreddy, Ali Nourbakhsh, Brian Willis, Bharat Guthikonda

Journal: Neurol India. ;58(1):6-14.

 

Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. ...

Last Updated: 15 Mar 2010

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Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment).
 

Author(s): Alfredo Avellaneda Fernández, Alberto Isla Guerrero, Maravillas Izquierdo Martínez, María Eugenia Amado Vázquez, Javier Barrón Fernández, Ester Chesa i Octavio, Javier De la Cruz Labrado, Mercedes Escribano Silva, Marta Fernández de Gamboa Fernández de Araoz, Rocío García-Ramos, Miguel García Ribes, Carmen Gómez, Joaquín Insausti Valdivia, Ramón Navarro Valbuena, José R Ramón

Journal:

 

Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually ...

Last Updated: 18 Dec 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Analysis of the Chiari I Malformation
 

Status: Recruiting

Condition Summary: Syringomyelia; Type I Arnold Chiari Malformation

 

Last Updated: 11 Nov 2014

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Dural Graft Equivalent Comparison Trial
 

Status: Recruiting

Condition Summary: Chiari Malformation

 

Last Updated: 22 Oct 2014

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A Prospective Natural History Study of Patients With Syringomyelia
 

Status: Recruiting

Condition Summary: Syringomyelia; Arnold Chiari Deformity

 

Last Updated: 11 Nov 2014

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