{"orpha":2655,"name":"Thanatophoric dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TD"],"definition":"A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2655/","orphanet_url":"https://www.orpha.net/en/disease/detail/2655","names":{"fr":{"name":"Dysplasie thanatophore","synonyms":["TD"],"definition":"Dysplasie osseuse primaire avec micromélie caractérisée par une micromélie, une macrocéphalie, une étroitesse de la cage thoracique et une dysmorphie faciale caractéristique. Elle inclut la dysplasie thanatophore (TD pour thanatophoric dysplasia) de type 1 (TD1) et de type 2 (TD2), que l'on distingue l'une de l'autre en fonction de la forme du crâne et du fémur."},"de":{"name":"Thanatophore Dysplasie","synonyms":["Kleinwuchs, thanatophorer","TD"],"definition":"Eine primäre Knochendysplasie mit Mikromelie, die durch Mikromelie, Makrozephalie, schmalen Thorax und ausgeprägte Gesichtszüge gekennzeichnet ist. Die TD wird eingeteilt in TD Typ 1 (TD1) und TD2 (TD2) (siehe diese Termini), die durch die Form des Femurs und des Schädels voneinander unterschieden werden."},"es":{"name":"Displasia tanatofórica","synonyms":["Enanismo tanatofórico","TD"],"definition":"Es una displasia ósea primaria con micromelia caracterizada por micromelia, macrocefalia, tórax estrecho y rasgos faciales distintivos. Incluye la DT tipo 1 (DT1) y la DT tipo 2 (DT2), que pueden diferenciarse entre sí por la forma del fémur y del cráneo."},"it":{"name":"Displasia tanatofora","synonyms":["Nanismo tanatoforo","TD"],"definition":"La displasia tanatofora (TD) è una displasia scheletrica primitiva caratterizzata da micromelia, macrocefalia, torace stretto e dismorfismi facciali caratteristici. Comprende la TD tipo 1 (TD1) e la TD tipo 2 (TD2), che si differenziano per la forma del femore e del cranio."},"nl":{"name":"Thanatofore dysplasie","synonyms":["TD","Thanatofore dwerggroei"],"definition":"Een primaire botdysplasie met micromelie gekarakteriseerd door micromelie, macrocefalie, smalle borstkas, en typische gelaatskenmerken. Het omvat TD, type 1 (TD1) en TD, type 2 (TD2), die van elkaar kunnen onderscheiden worden op basis van de vorm van het dijbeen en de schedel."},"pt":{"name":"Displasia tanatofórica","synonyms":["Nanismo tanatofórico"],"definition":"Displasia óssea primária com micromélia caracterizada por micromélia, macrocefalia, tórax estreito e características faciais distintivas. Inclui a DT tipo 1 (DT1) e a DT tipo 2 (DT2), que podem ser distinguidas entre si pelo formato do fémur e do crânio."},"pl":{"name":"Dysplazja tanatoforyczna","synonyms":["Karłowatość tanatoforyczna","TD"],"definition":"Dysplazja tanatoforyczna (TD) jest ciężką i uogólnioną letalną dysplazją szkieletową obecną w okresie prenatalnym i charakteryzującą się skróceniem kończyn, wielkogłowiem, wąską klatką piersiową i odrębnym wyglądem twarzy. Wyróżnia się typ I (TD1) i typ II (TD2) (zobacz te terminy), które można odróżnić poprzez kształt kości podudzi oraz czaszki."},"cs":{"name":"Tanatoforická dysplázie","synonyms":["TD","Tanatoforické trpaslictví"]},"uk":{"name":"Танатофорна дисплазія","synonyms":["TD"],"definition":"A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape."},"zh":{"name":"致死性发育不全","synonyms":["TD"]},"tr":{"name":"Tanatoforik displazi","synonyms":["TD"]}},"xrefs":[{"source":"OMIM","code":"156830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"187600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"187601","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1668919215"},{"source":"MONDO","code":"0017042","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"85","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089187","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]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[{"orpha":1860,"name":"Thanatophoric dysplasia type 1","type":"Clinical subtype"},{"orpha":93274,"name":"Thanatophoric dysplasia type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301540[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"],"via":{"orpha":1860,"name":"Thanatophoric dysplasia type 1"}},{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301540[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"],"via":{"orpha":93274,"name":"Thanatophoric dysplasia type 2"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"France","status":"Validated","source":"2785882[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Italy","status":"Validated","source":"3071354[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Sweden","status":"Validated","source":"8449630[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Denmark","status":"Validated","source":"2783977[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Ireland","status":"Validated","source":"22375084[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"Latin America","status":"Validated","source":"22407836[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"United States","status":"Validated","source":"22461456[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","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:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}