{"orpha":727820,"name":"Brainstem disconnection syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndrome with a brainstem malformation as a major feature characterized by the complete absence, or the complete or functional disconnection of the brainstem segments (midbrain, pons and medulla). Patients present with hypotonia, absence of eye contact, signs of impaired thermoregulation, paralysis of some cranial nerves and variable brain anomalies, mostly global cerebellar hypoplasia. Some patients manifest extracerebral anomalies like facial dysmorphism and heart defects. The prognosis is very poor and in case of survival, the patients suffer from severe disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-727820/","orphanet_url":"https://www.orpha.net/en/disease/detail/727820","names":{"fr":{"name":"Syndrome de déconnexion du tronc cérébral"},"de":{"name":"Hirnstamm-Diskonnektionssyndrom"},"es":{"name":"Síndrome de desconexión del tronco encefálico"},"it":{"name":"Sindrome da disconnessione del tronco encefalico"},"nl":{"name":"Hersenstam-disconnectiesyndroom"},"pt":{"name":"Brainstem disconnection syndrome"},"pl":{"name":"Brainstem disconnection syndrome"},"cs":{"name":"Brainstem disconnection syndrome"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729519,"name":"Syndrome with a brainstem malformation as a major feature","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}