{"orpha":166038,"name":"Metaphyseal chondrodysplasia, Kaitila type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166038/","orphanet_url":"https://www.orpha.net/en/disease/detail/166038","names":{"fr":{"name":"Chondrodysplasie métaphysaire type Kaitila","definition":"Dysplasie métaphysaire multiple rare caractérisée par une petite taille disproportionnée, des membres et des doigts courts, une trachéomalacie et une scoliose thoracique et lombaire progressive. La radiographie met en évidence une dysplasie métaphysaire marquée des os tubulaires dans l'enfance progressant vers des os courts et larges avec une légère dysplasie des articulations à l'âge adulte. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Chondrodysplasie, metaphysäre, Typ Kaitila"},"es":{"name":"Condrodisplasia metafisaria tipo Kaitila","definition":"Es una displasia metafisaria múltiple poco frecuente, caracterizada por talla baja desproporcionada, dedos y extremidades cortos, malacia traqueobronquial y escoliosis toracolumbar progresiva. La imagen radiológica muestra la progresión desde una notable displasia metafisaria de huesos tubulares en la infancia hasta huesos cortos y anchos con displasia leve de las articulaciones en la edad adulta. No se han descrito nuevos casos en la literatura desde 1982."},"it":{"name":"Condrodisplasia metafisaria, tipo Kaitila","definition":"La condrodisplasia metafisaria tipo Kaitila è una displasia metafisaria multipla rara, caratterizzata da bassa statura sproporzionata, accorciamento degli arti e delle dita, malacia tracheobronchiale e scoliosi toraco-lombare progressiva. Le radiografie evidenziano la progressione da una marcata displasia metafisaria delle ossa tubulari durante l'infanzia, verso un accorciamento ed un allargamento delle ossa con lieve displasia delle articolazioni nell'età adulta. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Metafysaire chondrodysplasie, Kaitila-type","definition":"Metafysaire chondrodysplasie, Kaitila-type, is een zeldzame multipele metafysaire dysplasie die gekarakteriseerd wordt door een onevenredig kleine gestalte, korte ledematen en vingers/tenen, tracheobronchiale malacie en progressieve thoracolumbale scoliose. Radiografische beeldvorming toont progressie van uitgesproken metafysaire dysplasie van tubulaire botten in de kindertijd tot korte en brede botten met milde dysplasie van de gewrichten in de volwassenheid. Sinds 1982 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Condrodisplasia metafisária, tipo Kaitila"},"pl":{"name":"Metafyzealna chondrodysplazja, typu Kaitila'a"},"cs":{"name":"Metafyzární chondrodysplázie, Kaitilův typ"},"uk":{"name":"Метафізарна хондродисплазія, тип Кайтіла","definition":"Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982."},"zh":{"name":"Kaitila 型骺板软骨发育不良","definition":"Kaitila型干骺端软骨发育不良是一种罕见的多发性干骺端发育不良疾病，其特征是不成比例的身材矮小，四肢和手指短小，气管支气管软化和进行性胸腰椎脊柱侧凸。放射影像显示从儿童期显著管状骨干骺端发育不良发展到成人期骨骼短而宽且伴轻度关节发育不良。自1982年以来，还未有更新的文献报道。"},"tr":{"name":"Metafizeal kondrodisplazi, Kaitila tipi"}},"xrefs":[{"source":"OMIM","code":"250230","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009594","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855217","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6979929[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6979929[PMID]"}],"phenotypes":null}