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Congenital Hydrocephalus

Congenital hydrocephalus, the expansion of the developing cerebrospinal fluid (CSF)-filled ventricles of the brain, affects 1 in 1,000 newborns and is empirically treated with morbid surgical CSF shunting.  Although hydrocephalus remains a major cause of morbidity and mortality in children, its cellular and molecular etiology is largely unknown and treatment options are limited.

The Kahle laboratory’s Congenital Hydrocephalus Study at Yale aims to gain insight into the molecular pathogenesis of hydrocephalus. This could lead to improvements in preventive, diagnostic and therapeutic strategies in the near future. This study is funded by the NIH Centers for Mendelian Genomics and is endorsed by the Hydrocephalus Association.

At this time, we are recruiting patients with congenital hydrocephalus. Exclusion criteria for this project are hydrocephalus that is secondary to tumor, hemorrhage, or meningitis. Affected individuals and their families are welcomed and encouraged to participate!