{"orpha":727881,"name":"Medullary tegmental cap dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["MTCD"],"definition":"A rare syndrome with a brainstem malformation as a major feature characterized by an abnormal mass, also called cap, of different shape and size, protruding from the posterior medullary surface. Patients may present a variable phenotype ranging from normal neurodevelopment to profound developmental delay, as well as variable neurologic manifestations such as hypotonia, strabismus, nystagmus, absent eye contact and hyperkinetic movements. Sometimes, extracerebral anomalies are observed such as cutaneous lesions, respiratory problems, hematologic and hepatic disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-727881/","orphanet_url":"https://www.orpha.net/en/disease/detail/727881","names":{"fr":{"name":"Dysplasie tegmentale de la moelle allongée","synonyms":["Dysplasie du tegmetum de la moelle allongée","Dysplasie tegmentale médullaire"]},"de":{"name":"Medulläre tegmentale Capdysplasie","synonyms":["MTCD"]},"es":{"name":"Displasia del casquete tegmental bulbar","synonyms":["MTCD"]},"it":{"name":"Displasia del tegmento midollare","synonyms":["MTCD"]},"nl":{"name":"Medullaire tegmentale kap-dysplasie","synonyms":["MTCD"]},"pt":{"name":"Medullary tegmental cap dysplasia"},"pl":{"name":"Medullary tegmental cap dysplasia","synonyms":["MTCD"]},"cs":{"name":"Medullary tegmental cap dysplasia","synonyms":["MTCD"]}},"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":27.0,"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}