{"orpha":485,"name":"Kniest dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare type&nbsp;2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. It was first described in 1952 by Dr&nbsp;Wilhelm Kniest, a German pediatrician.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-485/","orphanet_url":"https://www.orpha.net/en/disease/detail/485","names":{"fr":{"name":"Dysplasie de Kniest","definition":"Maladie osseuse rare liée au collagène&nbsp;2 caractérisée par une chondrodysplasie modérément sévère, une petite taille disproportionnée d'apparition prénatale, des articulations proéminentes et une amplitude articulaire limitée, des épiphyses élargies et une déformation en haltère des os longs. La maladie a été décrite pour la première fois en 1952 par un pédiatre allemand, Dr Wilhelm Kniest."},"de":{"name":"Kniest-Dysplasie","synonyms":["Kniest-Syndrom"],"definition":"Eine Kollagen-Typ-2-assoziierte Knochenerkrankung, die sich durch eine mittelschwere Chondrodysplasie mit disproportionalem Kleinwuchs, prominenten Gelenken mit eingeschränkter Beweglichkeit, großen Epiphysen und einer Hantelform der langen Knochen auszeichnet. Sie wurde erstmals im Jahr 1952 von dem deutschen Kinderarzt Dr. Wilhelm Kniest beschrieben."},"es":{"name":"Displasia de Kniest","definition":"Es un trastorno óseo poco frecuente relacionado con el colágeno tipo 2, caracterizado por condrodisplasia moderadamente grave con talla baja desproporcionada de inicio prenatal, articulaciones prominentes con movilidad restringida, epífisis grandes y deformidad de los huesos largos en forma de mancuerna. Fue descrita por primera vez en 1952 por el Dr. Wilhelm Kniest, un pediatra alemán."},"it":{"name":"Diplasia di Kniest"},"nl":{"name":"Kniestdysplasie","definition":"Een zeldzame aandoening van bot gerelateerd aan type 2 collageen, gekenmerkt door matig ernstige chondrodysplasie met disproportioneel kleine gestalte met prenatale aanvang, prominente gewrichten met beperkte mobiliteit, grote epifysen en haltervormige deformiteit van pijpbeenderen. De aandoening werd voor het eerst beschreven in 1952 by Dr. Wilhelm Kniest, een Duitse pediater."},"pt":{"name":"Displasia de Kniest"},"pl":{"name":"Dysplazja Kniesta"},"cs":{"name":"Kniestova dysplázie"},"uk":{"name":"Дисплазія Кніста","definition":"Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)."},"zh":{"name":"Kniest发育异常"},"tr":{"name":"Kniest displazisi"}},"xrefs":[{"source":"OMIM","code":"156550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2088691719"},{"source":"MONDO","code":"0007987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265279","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081685","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":138041,"name":"Pierre Robin syndrome associated with collagen disease","classifications":[147,156,200,209]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10406661[PMID]_15895462[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-29","source":"25604898[PMID]_4214536[PMID]_2931448[PMID]_4014370[PMID]_31021589[PMID]","terms":[{"hpo":"HP:0008271","label":"Abnormal cartilage collagen","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007964","label":"Degenerative vitreoretinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012069","label":"Keratan sulfate excretion in urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007773","label":"Vitreoretinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010574","label":"Abnormality of the epiphysis of the femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008063","label":"Aplasia/Hypoplasia of the lens","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009815","label":"Aplasia/hypoplasia of the extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010646","label":"Cervical spine instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000947","label":"Dumbbell-shaped long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010580","label":"Enlarged epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003051","label":"Enlarged metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007992","label":"Lattice retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012230","label":"Rhegmatogenous retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004557","label":"Anterior vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006454","label":"Delayed patellar ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006375","label":"Dumbbell-shaped femur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012019","label":"Lens luxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very rare (<4-1%)","criteria":null}]}}