{"orpha":1261,"name":"Bonnemann-Meinecke-Reich syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Encephalopathy-intracerebral calcification-retinal degeneration syndrome"],"definition":"Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1261/","orphanet_url":"https://www.orpha.net/en/disease/detail/1261","names":{"fr":{"name":"Syndrome de Bonnemann-Meinecke-Reich","synonyms":["Syndrome d'encéphalopathie-calcification intracérébrale-dégénérescence rétinienne"],"definition":"Le syndrome de Bonnemann-Meinecke-Reich est un syndrome d'anomalies congénitales multiples caractérisé par une encéphalopathie survenant principalement au cours de la première année de vie, et se présentant par un retard psychomoteur. Les manifestations additionnelles de la maladie incluent une dysmorphie modérée, une craniosynostose, un nanisme (dû à un déficit en hormone de croissance), un déficit intellectuel, une spasticité, une ataxie, une dégénérescence rétinienne, ainsi qu'une hypoplasie surrénale et utérine. La maladie a été décrite uniquement dans deux familles, chaque famille possédant deux frères et soeurs affectés. Un mode de transmission autosomique récessive a été suggéré. Il n'y a pas eu de description ultérieure dans la littérature depuis 1991."},"de":{"name":"Bonneman-Meinecke-Reich-Syndrom","synonyms":["Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration"],"definition":"Das Bonnemann-Meineke-Reich-Syndrom ist eine Kombination von multiplen kongenitalen Anomalien. Charakteristisch ist eine Enzephalopathie, die sich vor allem im ersten Lebensjahr in Form einer psychomotorischen Entwicklungsverzögerung zeigt. Weitere Merkmale dieser Erkrankung sind eine moderate Dysmorphie, Kraniosynostosen, Kleinwuchs (durch einen Wachstumshormonmangel), geistige Retardierung sowie Spastik, Ataxie, Netzhautdegeneration, Nebennieren- und Uterushypoplasie. Das Syndrom wurde bisher nur in zwei Familien beschrieben, in denen je zwei Geschwister betroffen waren. Es wird von einer autosomal-rezessiven Vererbung ausgegangen. Seit 1991 gab es keine weiteren Beschreibungen in der Fachliteratur."},"es":{"name":"Síndrome de Bonneman-Meinecke-Reich","synonyms":["Encefalopatía-calcificación intracerebral-degeneración retiniana"],"definition":"El síndrome de Bonneman-Meinecke-Reich es un síndrome de anomalías congénitas múltiples caracterizado por encefalopatía que se presenta predominantemente en el primer año de vida con retraso psicomotor. Algunos rasgos adicionales de la enfermedad incluyen dismorfia moderada, craneosinostosis, enanismo (debido a la deficiencia de la hormona de crecimiento), discapacidad intelectual, espasticidad, ataxia, degeneración retiniana, e hipoplasia suprarrenal y uterina. La enfermedad sólo se ha descrito en dos familias, con dos hermanos afectados en cada caso. Se ha sugerido una herencia autosómica recesiva. No se han encontrado más descripciones en la literatura desde 1991."},"it":{"name":"Sindrome di Bonnemann-Meinecke-Reich","synonyms":["Encefalopatia - calcificazione intracerebrale - degenerazione retinica"],"definition":"La sindrome di Bonnemann-Meinecke-Reich è una malattia caratterizzata da anomalie congenite multiple, con encefalopatia a esordio per lo più nel primo anno di vita che si manifesta con ritardo psicomotorio e dismorfismi moderati, compresa la craniosinostosi, il nanismo (da deficit dell'ormone della crescita), la spasticità, l'atassia, la degenerazione retinica, e l'ipoplasia uterina e surrenalica. La malattia è stata descritta in due famiglie, ognuna con due fratelli affetti. È stata suggerita una trasmissione autosomica recessiva. Non sono stati descritti nuovi casi dal 1991."},"nl":{"name":"Syndroom van Bonnemann-Meinecke-Reich","synonyms":["Encefalopathie - intracerebrale calcificatie - retinale degeneratie-syndroom"],"definition":"Bonnemann-Meinecke-Reichsyndroom is een syndroom met meervoudige congenitale afwijkingen, gekenmerkt door een encefalopathie die voornamelijk in het eerste levensjaar voorkomt en zich presenteert als psychomotorische achterstand. Bijkomstige kenmerken van de ziekte zijn matige dysmorfie, craniosynostose, dwerggroei (als gevolg van groeihormoondeficiëntie), een intellectuele achterstand, spasticiteit, ataxie, retinale degeneratie en hypolasie van de bijnier en baarmoeder. De ziekte werd bij slechts twee families beschreven, en elke familie had twee getroffen broers en zussen. Een autosomaal recessieve overerving werd vermoed. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Bonneman-Meinecke-Reich"},"pl":{"name":"Zespół Bonnemanna, Meinecke i Reicha","synonyms":["Encefalopatia - zwapnienia wewnątrzczaszkowe - degeneracja siatkówki"]},"cs":{"name":"Bonnemannův-Meineckeho-Reichův syndrom","synonyms":["Syndrom zahrnující encefalopatii, intracerebrální kalcifikaci a retinální degeneraci","Bonnemann-Meinecke-Reichův syndrom"]},"uk":{"name":"Синдром Боннемана-Мейнеке-Райха","synonyms":["Синдром енцефалопатії - внутрішньомозкової кальцифікації - дегенерація сітківки"],"definition":"Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991."},"zh":{"name":"Bonnemann-Meinecke-Reich综合征","synonyms":["脑病-脑内钙化-视网膜变性综合征"]},"tr":{"name":"Bonnemann-Meinecke-Reich sendromu","synonyms":["Ensefalopati-intraserebral kalsifikasyon-retina dejenerasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"225755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518560","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2113","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2654691[PMID]_1941968[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2654691[PMID]_1941968[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}