{"orpha":1426,"name":"Greenberg dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HEM dysplasia","Hydrops-ectopic calcification-motheaten syndrome","Skeletal dysplasia, Greenberg type"],"definition":"Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1426/","orphanet_url":"https://www.orpha.net/en/disease/detail/1426","names":{"fr":{"name":"Dysplasie squelettique létale type Greenberg","definition":"La dysplasie de Greenberg est une dysplasie squelettique très rare et létale caractérisée par un <i>hydrops fetalis</i>, des membres courts et une calcification anormale des os et des cartilages. La maladie est létale <i>in utero</i> et les foetus atteints sont considérés comme non viables."},"de":{"name":"Greenberg-Dysplasie","synonyms":["HEM-Dysplasie","Hydrops-ektopische Kalzifikation-Mottenfraß-Syndrom","Skelettdysplasie, Typ Greenberg"],"definition":"Die Greenberg-Dysplasie ist eine sehr seltene Skelettdysplasie, gekennzeichnet durch Hydrops fetalis, erheblich verkürzte Gliedmaßen, erheblich verminderte Körpergröße und abnorme, disorganisierte chondro-ossäre Kalzifizierung."},"es":{"name":"Displasia de Greenberg","synonyms":["Displasia HEM","Displasia esquelética, tipo Greenberg","Síndrome de hidropesía-calcificación ectópica-displasia esquelética apolillada"],"definition":"La displasia de Greenberg es un tipo muy poco frecuente de displasia letal caracterizada por hidropesía fetal, extremidades cortas y una calcificación anómala del tejido condroóseo. Esta enfermedad se caracteriza por una mortalidad intrauterina temprana, siendo los fetos afectados inviables."},"it":{"name":"Displasia di Greenberg","synonyms":["Displasia scheletrica, tipo Greenberg","Idrope - calcificazione ectopica - aspetto tarlato dell'osso"]},"nl":{"name":"Dysplasie van Greenberg","synonyms":["HEM-dysplasie","Hydrops - ectopische calcificatie - moth-eaten-syndroom","Skeletdysplasie, Greenberg-type"],"definition":"Dysplasie van Greenberg is een zeer zeldzame letale skeletdysplasie, gekenmerkt door hydrops foetalis, korte ledematen, en abnormale chondro-osseuze calcificatie. De ziekte wordt gekenmerkt door vroege <i>in utero</i> letaliteit, en getroffen foetussen worden als niet-leefbaar beschouwd."},"pt":{"name":"Displasia Greenberg","synonyms":["Displasia esquelética tipo Greenberg"]},"pl":{"name":"Dysplazja Greenberga","synonyms":["Dysplazja szkieletowa, typu Greenberga"]},"cs":{"name":"Greenbergové dysplázie","synonyms":["Syndrom zahrnující hydrops, ektopickou kalcifikaci a skeletální dysplázii (kosti mající vzhled prožrání od molů)","Skeletální dysplázie, Greenbergové typ"]},"uk":{"name":"Дисплазія Грінберга","synonyms":["Дисплазія НЕМ","Гідропсихічний синдром ектопічної кальцифікації та мокротиння","Скелетна дисплазія, тип Грінберга"],"definition":"Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable."},"zh":{"name":"Greenberg骨骼发育不良","synonyms":["水肿-异位钙化-虫蚀样综合征"]},"tr":{"name":"Greenberg displazisi","synonyms":["HEM displazisi","İskelet displazisi, Greenberg tipi","Hidrops-ektopik kalsifikasyon-motheaten sendromu"]}},"xrefs":[{"source":"OMIM","code":"215140","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1858458540"},{"source":"MONDO","code":"0008974","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931048","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8754","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":99645,"name":"Dappled diaphyseal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"LBR","name":"lamin B receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21327084[PMID]","hgnc":"6518","ensembl":"ENSG00000143815","omim":"600024","loci":["1q42.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"14684697[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001881","label":"Abnormal leukocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009106","label":"Abnormal pelvis bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006619","label":"Anterior rib punctate calcifications","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008890","label":"Severe short-limb dwarfism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null}]}}