{"orpha":968,"name":"Acromesomelic dysplasia, Hunter-Thompson type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acromesomelic dwarfism"],"definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-968/","orphanet_url":"https://www.orpha.net/en/disease/detail/968","names":{"fr":{"name":"Dysplasie acromésomélique type Hunter-Thompson","synonyms":["Nanisme acromésomélique"],"definition":"Une dysplasie acromésomélique autosomique récessive rare caractérisée par un nanisme sévère (taille adulte d'environ 120 cm) avec des anomalies limitées aux membres (affectant plus les membres inférieurs que les membres supérieurs, les segments moyen et distal étant les plus affectés), raccourcissement sévère, absence ou fusion des os tubulaires des mains et des pieds et de grandes luxations articulaires. Comme observé dans la dysplasie acromésomélique type Grèbe et la dysplasie acromésomélique type Maroteaux ; les traits du visage sont normaux et la déficience intellectuelle n'est pas notée."},"de":{"name":"Dysplasie, akromesomele, Typ Hunter-Thompson","synonyms":["Kleinwuchs, akromesomeler"],"definition":"Eine seltene autosomal-rezessive akromesomele Dysplasie, die durch schweren Kleinwuchs (Körpergröße im Erwachsenenalter ca. 120 cm) mit auf die Gliedmaßen beschränkten Anomalien (betrifft die unteren Gliedmaßen stärker als die oberen, wobei die mittleren und distalen Segmente am stärksten betroffen sind), starke Verkürzung, Fehlen oder Fusion der Röhrenknochen von Händen und Füßen und große Gelenkdislokationen gekennzeichnet ist. Wie bei der akromesomelen Dysplasie Typ Grebe, und der akromesomelen Dysplasie Typ Maroteaux, sind die Gesichtszüge und die Intelligenz normal."},"es":{"name":"Displasia acromesomélica tipo Hunter-Thompson","synonyms":["Enanismo acromesomélico"],"definition":"Es una forma de displasia acromesomélica de herencia autosómica recesiva caracterizada por talla baja extrema (talla adulta final de aproximadamente 120 cm) con anomalías localizadas en las extremidades (afectando a las extremidades inferiores en mayor grado que a las superiores, siendo los segmentos distales y centrales los más afectados), incluyendo acortamiento marcado, ausencia o fusión de huesos tubulares en manos y pies, y luxación de las grandes articulaciones. Los rasgos faciales y la inteligencia son normales, al igual que en la displasia acromesomélica tipo Grebe y en la displasia acromesomélica tipo Maroteaux."},"it":{"name":"Displasia acromesomelica, tipo Hunter-Thompson","synonyms":["Nanismo acromesomelico"],"definition":"La displasia acromesomelica tipo Hunter-Thompson è una forma autosomica recessiva di displasia acromesomelica (si veda questo termine), caratterizzata da nanismo grave (statura adulta di circa 120 cm) associato ad anomalie degli arti (maggiore interessamento degli arti inferiori, in particolare dei segmenti medi e distali), marcato accorciamento, assenza o fusione delle ossa tubulari delle mani e dei piedi e dislocazione delle grandi articolazioni. Così come nella displasia acromesomelica tipo Grebe e nella displasia acromesomelica tipo Maroteaux (si vedano questi termini), i lineamenti del volto e l'intelligenza sono normali."},"nl":{"name":"Acromesomele dysplasie, Hunter-Thomson-type","synonyms":["Acromesomele dwerggroei"],"definition":"Een zeldzame, autosomaal recessieve acromesomele dysplasie, gekarakteriseerd door ernstige dwerggroei (volwassen lengte van ongeveer 120 cm) met afwijkingen beperkt tot de ledematen (waarbij de onderste ledematen meer worden getroffen dan de bovenste ledematen, en de middelste en distale segmenten het meest worden aangetast), ernstige verkorting, afwezigheid of fusie van tubulaire botten van handen en voeten, en grote gewrichtsdislocaties. Net als bij acromesomele dysplasie, Grebe-type en acromesomele dysplasie, Maroteaux-Type, zijn de gelaatskenmerken en intelligentie normaal."},"pt":{"name":"Displasia acromesomélica, tipo Hunter-Thompson","definition":"Displasia acromesomélica autossómica recessiva rara, caracterizada por nanismo grave (altura adulta de aproximadamente 120 cm) com anomalias limitadas aos membros (afetando mais os membros inferiores do que os superiores, sendo os segmentos médio e distal os mais afetados), encurtamento grave, ausência ou fusão dos ossos tubulares das mãos e dos pés e grandes luxações articulares. Tal como acontece com a displasia acromesomélica tipo Grebe e a displasia acromesomélica tipo Maroteaux, as características faciais e a inteligência são normais."},"pl":{"name":"Dysplazja akromezomeliczna typu Huntera i Thomsona","synonyms":["Karłowatość akromezomeliczna"]},"cs":{"name":"Akromegalická dysplázie, Hunterův-Thompsonův typ","synonyms":["Akromezomelické trpaslictví","Akromegalická dysplázie, Hunter-Thompsonův typ"]},"uk":{"name":"Акромезотеліальна дисплазія, тип Хантера-Томпсона","synonyms":["Акромезомелічна карликовість"],"definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal."},"zh":{"name":"肢端肢中发育不良，Hunter-Thompson型","synonyms":["肢端肢中性侏儒症"]},"tr":{"name":"Akromezomelik displazi, Hunter-Thompson tipi","synonyms":["Akromezomelik cücelik"]}},"xrefs":[{"source":"OMIM","code":"201250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"233333310"},{"source":"MONDO","code":"0008717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930970","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"506","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93437,"name":"Acromesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GDF5","name":"growth differentiation factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"8589725[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008890","label":"Severe short-limb dwarfism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006014","label":"Abnormally shaped carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006011","label":"Cuboidal metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null}]}}