{"orpha":2347,"name":"Lethal Kniest-like dysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2347/","orphanet_url":"https://www.orpha.net/en/disease/detail/2347","names":{"fr":{"name":"Dysplasie létale Kniest-like","definition":"Chondrodysplasie létale congénitale rare caractérisée par des os longs en forme d'haltères avec des diaphyses nettement raccourcies et des métaphyses irrégulières, en association avec une matrice du cartilage qui ressemble à du gruyère et avec des lésions caractéristiques au niveau des plaques de croissance et de la zone de réserve du cartilage, entraînant le décès du nourrisson en période néonatale. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Kniest-ähnliche Dysplasie, letale","definition":"Eine letale angeborene Skelettdysplasie, die durch hantelförmige Röhrenknochen mit stark verkürzten Diaphysen und metaphysären Unregelmäßigkeiten in Verbindung mit einem \"Schweizer Käse\"-Erscheinungsbild der Knorpelmatrix sowie ausgeprägten Veränderungen der Wachstumsplatte und des ruhenden Knorpels gekennzeichnet ist und zum Tod in der Neugeborenenphase führt. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia similar a Kniest letal","synonyms":["Displasia de Kniest-like letal"],"definition":"Es una condrodisplasia congénita, letal y poco frecuente, caracterizada por huesos largos en forma de mancuerna con diáfisis notablemente reducidas e irregularidades metafisarias asociadas a una matriz cartilaginosa con apariencia de \"queso suizo\", así como por cambios distintivos en la placa de crecimiento y la zona de cartílago en reposo, causando el fallecimiento en el período neonatal. No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Displasia letale simile alla sindrome di Knieste","definition":"È una condrodisplasia congenita rara letale, caratterizzata da ossa lunghe a forma di manubrio con diafisi marcatamente corte e metafisi irregolari, aspetto a ''formaggio svizzero'' della matrice della cartilagine, e alterazioni caratteristiche dei piatti di crescita e della restante cartilagine. La malattia è letale nel periodo neonatale. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Letale Kniest-achtige dysplasie","definition":"Een zeldzame, letale, congenitale chondrodysplasie die gekarakteriseerd wordt door haltervormige pijpbeenderen met aanzienlijk verkorte diafysen en metafysaire onregelmatigheden, geassocieerd met een \"Zwitserse kaas\"-uiterlijk van de kraakbeenmatrix, alsook typische veranderingen van de groeischijf en rustend kraakbeen, en die leidt tot overlijden in de neonatale periode. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia Kniest-like letal"},"pl":{"name":"Śmiertelna dysplazja podobna do dysplazji Kniesta"},"cs":{"name":"Letální dysplázie podobná Kniestově"},"uk":{"name":"Летальна Кніст-подібна дисплазія","definition":"A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983."},"zh":{"name":"致死性类Kniest发育不良"},"tr":{"name":"Letal Kniest benzeri displazi"}},"xrefs":[{"source":"OMIM","code":"245190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009498","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855605","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3124","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93465,"name":"Lethal chondrodysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6358440[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6358440[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-18","source":"6358440[PMID]","terms":[{"hpo":"HP:0008178","label":"Abnormal cartilage matrix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002763","label":"Abnormal cartilage morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003174","label":"Abnormality of the ischium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000907","label":"Anterior rib cupping","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005622","label":"Broad long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005026","label":"Mesomelic/rhizomelic limb shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008890","label":"Severe short-limb dwarfism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null}]}}