rhombencephalosynapsis
MONDO:0018946
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
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Rhombencephalosynapsis
Rhombencephalosynapsis is a rare genetic brain abnormality of malformation of the cerebellum. The cerebellar vermis is either absent or only partially formed, and fusion is seen in varying degree between the cerebellar hemispheres, fusion of the middle cerebellar peduncles, and fusion of the dentate nuclei. Findings range from mild truncal ataxia, to severe cerebral palsy. Rhombencephalosynapsis is a constantly found feature of Gomez-Lopez-Hernandez syndrome. One case of which has shown a co-occurrence with autism-spectrum disorder.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.