Baker Vinters syndrome

MONDO:0021966

A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.

Also known as: hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies

4 clinical trials for this condition and its sub-types.

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