{"orpha":646139,"name":"Dysplastic cortical hyperostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-646139/","orphanet_url":"https://www.orpha.net/en/disease/detail/646139","names":{"fr":{"name":"Hyperostose corticale dysplasique","definition":"Dysplasie osseuse primaire condensante rare, caractérisée par un nanisme néonatal létal avec anasarque. Un épaississement cortical du squelette, en particulier des os longs et des côtes, une brachycéphalie, une brachydactylie sévère et des anomalies craniofaciales ont été rapportés."},"de":{"name":"Dysplastische kortikale Hyperostose","definition":"Eine seltene primäre Knochendysplasie mit erhöhter Knochendichte, die durch einen letal verlaufenden neonatalen Kleinwuchs mit Hydrops gekennzeichnet ist. Es wird über Kortikalisverdickungen im gesamten Skelett, insbesondere in den langen Knochen und Rippen, Brachyzephalie, schwere Brachydaktylie und kraniofaziale Anomalien berichtet."},"es":{"name":"Hiperostosis cortical displásica","definition":"Es una displasia ósea primaria poco frecuente con aumento de la densidad ósea caracterizada por enanismo neonatal letal con hidropesía. Se ha descrito engrosamiento cortical en todo el esqueleto, especialmente en huesos largos y costillas, braquicefalia, braquidactilia grave y anomalías craneofaciales."},"it":{"name":"Iperostosi corticale displastica"},"nl":{"name":"Dysplastische corticale hyperostose","definition":"Een zeldzame primaire botdysplasie met verhoogde botdensiteit, gekenmerkt door letale neonatale dwerggroei met hydrops. Corticale verdikking doorheen het skelet, vooral in pijpbeenderen en ribben, brachycefalie, ernstige brachydactylie en craniofaciale anomalieën worden gerapporteerd."},"pt":{"name":"Hiperostose cortical displásica"},"pl":{"name":"Dysplastyczna hiperostoza korowa","definition":"Rzadka pierwotna dysplazja kostna o letalnym przebiegu, ze zwiększoną gęstością kości, w której występuje obrzęk płodu i karłowatość noworodkowa. Zgłaszano pogrubienia warstwy korowej kości w całym szkielecie, szczególnie w kościach długich i żebrach, brachycefalię, ciężką brachydaktylia i nieprawidłowości czaszkowo-twarzowe."},"cs":{"name":"Dysplastická kortikální hyperostóza"},"uk":{"name":"Диспластичний кортикальний гіперостоз"}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"607086753"},{"source":"MONDO","code":"0016357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[{"orpha":646136,"name":"Dysplastic cortical hyperostosis, Al-Gazali type","type":"Clinical subtype"},{"orpha":2204,"name":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}