Enamel hypoplasia cataract hydrocephaly

Overview

(medical condition): A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.

Symptoms

* Underdeveloped tooth enamel * Cataract * Enlarged brain ventricles * Narrowed aqueduct of Sylvius * Hydrocephalus

Causes

* Acutane embryopathy - hydrocephalus * Adams-Oliver syndrome * Alexander disease * Alexander Syndrome - hydrocephalus * Alpha-L-iduronidase deficiency