baker Vinters syndrome
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.
MONDO:0001150
hydrocephalus
is_a
MONDO:0002254
syndromic disease
is_a
hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies
related