baker Vinters syndrome
http://purl.obolibrary.org/obo/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. [ https://orcid.org/0000-0001-5208-3432 PMID:6730919 ]
Term info
- MESH:C537899 (MONDO:equivalentTo)
- GARD:0000808 (MONDO:equivalentTo)
- UMLS:C2931659 (MONDO:equivalentTo)
gard_rare, n_of_one
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.
http://linkedlifedata.com/resource/umls/id/C2931659, http://identifiers.org/mesh/C537899
hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies
MONDO:0021966
https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome