{"orpha":429,"name":"Hypochondroplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-429/","orphanet_url":"https://www.orpha.net/en/disease/detail/429","names":{"fr":{"name":"Hypochondroplasie","definition":"Une dysplasie osseuse primaire avec micromélie caractérisée par une petite taille disproportionnée, une légère lordose lombaire et une extension limitée des articulations du coude."},"de":{"name":"Hypochondroplasie","definition":"Eine primäre Knochendysplasie mit Mikromelie, die durch unproportionierten Kleinwuchs, eine leichte Lendenlordose und eine eingeschränkte Streckbarkeit der Ellenbogengelenke gekennzeichnet ist."},"es":{"name":"Hipoacondroplasia","definition":"Es una displasia ósea primaria con micromelia caracterizada por talla baja desproporcionada, lordosis lumbar leve y extensión limitada de la articulación del codo."},"it":{"name":"Ipocondroplasia","definition":"L'ipocondroplasia è una displasia scheletrica primitiva con micromelia, caratterizzata da bassa statura sproporzionata, lieve lordosi lombare e limitazione dell'estensione delle articolazioni del gomito."},"nl":{"name":"Hypochondroplasie","definition":"Een primaire botdysplasie met micromelie, gekarakteriseerd door disproportioneel kleine gestalte, milde lumbale lordose en beperkte extensie van ellebooggewricht."},"pt":{"name":"Hipocondroplasia","definition":"A hipocondroplasia é caracterizada por baixa estatura desproporcionada, lordose lombar ligeira e limitação da extensão das articulações do cotovelo."},"pl":{"name":"Hipochondroplazja","definition":"Pierwotna dysplazja kości z mikromelią, charakteryzująca się nieproporcjonalnym niskim wzrostem, łagodną lordozą lędźwiową i ograniczonym wyprostem stawów łokciowych."},"cs":{"name":"Hypochondroplázie"},"uk":{"name":"Гіпохондроплазія","definition":"A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints."},"zh":{"name":"软骨发育不良"},"tr":{"name":"Hipokondroplasi"}},"xrefs":[{"source":"OMIM","code":"146000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1930265486"},{"source":"MONDO","code":"0007793","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562937","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6724","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020967","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93420,"name":"FGFR3-related chondrodysplasia","classifications":[156]},{"orpha":364536,"name":"Primary bone dysplasia with micromelia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301650[PMID]_23149434[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0303,"area":"Worldwide","status":"Validated","source":"20301650[PMID]_33051983[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0303,"area":"Worldwide","status":"Validated","source":"20301650[PMID]_33051983[PMID]"}],"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:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011405","label":"Childhood onset short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null}]}}