The Center for Human Genetics, in collaboration with Dr. Thomas Milhorat and colleagues of SUNY-Brooklyn, the American Syringomyelia Alliance Project, and the Canadian Syringomyelia Network is investigating the hereditary basis of Chiari type I malformations with or without syringomyelia.
Chiari malformations occur in the region where the brain and spinal cord join.
Chiari malformations were first described in the 1890's by Professor Chiari, a German pathologist. He assigned a grade to the malformations beginning with Type I, the mildest form, classification today. Scientists and physicians further define Chiari malformations by the exact millimeter of brain stem that extends into the neck. Chiari type I malformations are a result of the smallest degree of herniation and are not associated with spina bifida. Chiari type II malformations are almost exclusively associated with a type of spina bifida known as a myelomeningocele, an opening of the spine and spinal cord on the lower back.