{"orpha":15,"name":"Achondroplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-15/","orphanet_url":"https://www.orpha.net/en/disease/detail/15","names":{"fr":{"name":"Achondroplasie","definition":"Dysplasie osseuse primaire avec micromélie caractérisée par une rhizomélie, une hyperlordose lombaire, une brachydactylie et une macrocéphalie avec front proéminent et une hypoplasie de l'étage moyen du visage."},"de":{"name":"Achondroplasie","definition":"Eine primäre Knochendysplasie mit Mikromelie, gekennzeichnet durch Rhizomelie, ausgeprägte Lendenlordose, Brachydaktylie und Makrozephalie mit prominenter Stirn und Mittelgesichtshypoplasie."},"es":{"name":"Acondroplasia","definition":"Es una displasia ósea primaria con micromelia caracterizada por rizomelia, lordosis lumbar exagerada, braquidactilia y macrocefalia con abombamiento frontal e hipoplasia del tercio mediofacial."},"it":{"name":"Acondroplasia","definition":"Si tratta di una displasia scheletrica primitiva associata a micromelia, caratterizzata da rizomelia, lordosi lombare molto marcata, brachidattilia e macrocefalia con fronte bombata e ipoplasia medio-facciale."},"nl":{"name":"Achondroplasie","definition":"Een primaire botdysplasie met micromelie gekarakteriseerd door rhizomelie, overdreven lumbale lordose, brachydactylie, en macrocefalie met boller voorhoofd en hypoplasie van het middengezicht."},"pt":{"name":"Acondroplasia","synonyms":["Nanismo acondroplástico"],"definition":"Displasia óssea primária com micromélia caracterizada por rizomélia, hiperlordose lombar, braquidactilia e macrocefalia com bossas frontais e hipoplasia do andar médio da face."},"pl":{"name":"Achondroplazja","definition":"Pierwotna dysplazja kości z mikromelią charakteryzująca się rizomelią, hiperlordozą lędźwiową, brachydaktylią i makrocefalią z wydatnymi guzami czołowymi i hipoplazją środkowej części twarzy."},"cs":{"name":"Achondroplázie"},"uk":{"name":"Ахондроплазія","definition":"A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia."},"zh":{"name":"软骨发育不全"},"tr":{"name":"Akondroplazi"}},"xrefs":[{"source":"OMIM","code":"100800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"24224082"},{"source":"MONDO","code":"0007037","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8173","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000452","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":"23149434[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.73,"area":"Worldwide","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.62,"area":"Europe","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.645,"area":"France","status":"Validated","source":"32803853[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Italy","status":"Validated","source":"3071354[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.195,"area":"Sweden","status":"Validated","source":"32803853[PMID]_[ORPHANET]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.6466,"area":"Spain","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.37,"area":"Denmark","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Latin America","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Australia","status":"Validated","source":"458831[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.63,"area":"Switzerland","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.7877,"area":"United Kingdom","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Ukraine","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":79.05,"area":"Iraq","status":"Validated","source":"32803853[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.73,"area":"Iran, Islamic Republic of","status":"Validated","source":"32803853[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.92,"area":"Kuwait","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.87,"area":"Lebanon","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":48.14,"area":"Saudi Arabia","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.51,"area":"United Arab Emirates","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.53,"area":"Cameroon","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"North America","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.42,"area":"Cuba","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.75,"area":"Mexico","status":"Validated","source":"32803853[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.75,"area":"Argentina","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.25,"area":"Venezuela","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.76,"area":"Germany","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.35,"area":"Malta","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.01,"area":"Netherlands","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.39,"area":"Norway","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.47,"area":"Poland","status":"Validated","source":"32803853[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.11,"area":"Nigeria","status":"Validated","source":"32803853[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"32803853[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-13","source":"20301331[PMID]_31497119[PMID]_31727132[PMID]_29185944[PMID]_30606190[PMID]","terms":[{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005619","label":"Thoracolumbar kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008445","label":"Cervical spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011452","label":"Functional abnormality of the middle ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045087","label":"Hip joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000242","label":"Parietal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003194","label":"Short nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010241","label":"Short proximal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004060","label":"Trident hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011867","label":"Abnormality of the wing of the ilium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003375","label":"Narrow greater sciatic notch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null}]}}