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Genetic and Rare Diseases Information Center (GARD)

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Chiari malformation type 2

Other Names for this Disease
  • Arnold Chiari malformation type II
  • Arnold-Chiari malformation
  • Chiari malformation type II
  • Chiari type II malformation
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What is Chiari malformation type 2?

Is Chiari malformation type 2 inherited?

What is Chiari malformation type 2?

Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord).[1] This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities.[2] Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry.[3] Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life.[2] The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine.[2] The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.[1]
Last updated: 8/8/2011

Is Chiari malformation type 2 inherited?

Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition.[1] Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be.[4]

There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation.[4] However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele.[3]

Last updated: 8/9/2011

  1. Chiari Malformation Fact Sheet. NINDS. June 7, 2011; Accessed 8/8/2011.
  2. Arnold-Chiari Malformation. NORD. April 19, 2008; Accessed 8/8/2011.
  3. Cassandra L. Kniffin. CHIARI MALFORMATION TYPE II. OMIM. August 9, 2006; Accessed 8/8/2011.
  4. Arnold-Chiari Malformation. NORD. April 19, 2008; Accessed 8/9/2011.