{"orpha":1801,"name":"Kyphomelic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1801/","orphanet_url":"https://www.orpha.net/en/disease/detail/1801","names":{"fr":{"name":"Dysplasie kyphomélique","definition":"Dysplasie osseuse primaire rare caractérisée, sur le plan radiologique, par des os longs raccourcis et épais, des fémurs très angulaires et une incurvation moins importante des autres os longs (légère, modérée ou aucune incurvation), des os iliaques courts et larges avec un toit de l'acetabulum horizontal, une platyspondylie et un thorax étroit. Sur le plan clinique, la maladie se manifeste par une petite taille disproportionnée, de forme sévère. L'angulation du fémur régresse à mesure que le patient vieillit."},"de":{"name":"Dysplasie, kyphomele","definition":"Eine seltene primäre Knochendysplasie, die radiologisch durch kurze, stumpfe Röhrenknochen, stark abgewinkelte Oberschenkelknochen und eine geringere Verkrümmung anderer Röhrenknochen (leichte, mäßige oder keine Verkrümmung), kurze und breite Illiaca-Flügel mit horizontalen Acetabulumdächern, Platyspondylie und einen schmalen Thorax gekennzeichnet ist und sich klinisch durch eine schwere, überproportionale Kleinwüchsigkeit äußert. Mit zunehmendem Alter wird eine Rückbildung der Oberschenkelknochenwinkelung beobachtet."},"es":{"name":"Displasia cifomélica","definition":"Es una displasia ósea primaria poco frecuente caracterizada radiológicamente por huesos largos acortados y ensanchados, con una marcada angulación de los fémures y menor incurvación de otros huesos largos (pudiendo ser leve, moderada o ausente), alas ilíacas cortas y anchas con techos acetabulares horizontales, platispondilia y tórax estrecho, que se manifiesta clínicamente con marcada talla baja grave desproporcionada. La angulación femoral remite con el paso de los años."},"it":{"name":"Displasia cifomelica","definition":"È una displasia scheletrica primitiva rara, caratterizzata, dal punto di vista radiologico, da accorciamento e aspetto tozzo delle ossa lunghe, femori marcatamente angolati e minore incurvamento delle altre ossa lunghe (lieve, moderato o assente), ossa iliache corte e allargate con tetti acetabolari orizzontali, platispondilia e torace stretto. Dal punto di vista clinico, la malattia è caratterizzata da statura molto bassa e sproporzionata. Con l'età, l'angolazione dei femori regredisce."},"nl":{"name":"Kyfomelische dysplasie","definition":"Een zeldzame primaire botdysplasie die radiologisch gekarakteriseerd wordt door korte, stompe pijpbeenderen, ernstig gekromde dijbeenderen en minder buiging van andere pijpbeenderen (milde, matige of geen buiging), korte en brede darmbeenvleugels met horizontale heupkom, platyspondylie en een smalle borstkas, en die zich klinisch manifesteert met ernstige, disproportioneel kleine gestalte. Er wordt regressie van de kromming van de dijbeenderen waargenomen met het ouder worden."},"pt":{"name":"Displasia cifomélica"},"pl":{"name":"Dysplazja kifomeliczna"},"cs":{"name":"Kyfomelická dysplázie"},"uk":{"name":"Кіфомелічна дисплазія","definition":"A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age."},"zh":{"name":"脊柱后凸发育不良"},"tr":{"name":"Kifomelik displazi"}},"xrefs":[{"source":"OMIM","code":"211350","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.C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"268821879"},{"source":"MONDO","code":"0008881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432239","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000907","label":"Anterior rib cupping","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010561","label":"Undulate ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000895","label":"Lateral clavicle hook","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null}]}}