{"orpha":2098,"name":"Acromesomelic dysplasia, Grebe type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chondrodysplasia, Grebe type"],"definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2098/","orphanet_url":"https://www.orpha.net/en/disease/detail/2098","names":{"fr":{"name":"Dysplasie acromésomélique type Grebe","synonyms":["Chondrodysplasie type Grebe"],"definition":"Dysplasie acromésomélique récessive autosomique rare, caractérisée par un retard statural sévère à la naissance, des déformations limitées aux membres, des os longs déformés et sévèrement raccourcis, une fusion ou une absence des os du carpe et du tarse, des doigts repliés en forme de boule et, dans certains cas, une polydactylie et une absence d'articulations. Comme c'est le cas de la dysplasie acromésomélique type Hunter-Thompson et de la dysplasie acromésomélique type Maroteaux, il n'existe pas de dysmorphie faciale et l'intelligence est normale."},"de":{"name":"Dysplasie, akromesomele, Typ Grebe","synonyms":["Chondrodysplasie Typ Grebe"]},"es":{"name":"Displasia acromesomélica tipo Grebe","synonyms":["Condrodisplasia tipo Grebe"],"definition":"Es un tipo de displasia acromesomélica con un patrón de herencia autosómico recesivo caracterizado por talla baja extrema al nacimiento, anomalías confinadas a las extremidades, acortamiento y graves malformaciones de los huesos largos, fusión o ausencia de huesos carpianos y tarsianos, dedos de las manos bulbosos y, ocasionalmente, polidactilia y articulaciones ausentes. Al igual que en la displasia acromesomélica tipo de Hunter-Thomson y en la displasia acromesomélica tipo Maroteaux, los rasgos faciales y la inteligencia son normales."},"it":{"name":"Displasia acromesomelica, tipo Grebe","synonyms":["Condrodisplasia, tipo Grebe"],"definition":"La displasia acromesomelica tipo Grebe è una displasia acromesomelica autosomica recessiva (si veda questo termine), caratterizzata da nanismo grave alla nascita, anomalie degli arti, grave accorciamento e deformità delle ossa lunghe, fusione o aplasia delle ossa carpali e tarsali, dita globose e, raramente, polidattilia e aplasia delle articolazioni. Le caratteristiche del viso e l'intelligenza sono normali, così come nella displasia acromesomelica tipo Hunter-Thomson e nella displasia acromesomelica tipo Maroteaux (si vedano questi termini)."},"nl":{"name":"Acromesomele dysplasie, Grebe-type","synonyms":["Chondrodysplasie, Grebe-type"],"definition":"Een zeldzame, autosomaal recessieve acromesomele dysplasie, gekarakteriseerd door ernstige dwerggroei bij de geboorte, afwijkingen beperkt tot de ledematen, ernstige verkorting en misvorming van pijpbeenderen, fusie of afwezigheid van carpale en tarsale beenderen, bolvormige vingers en, occasioneel, polydactylie en afwezige gewrichten. Net als bij acromesomele dysplasie, Hunter-Thomson-type, en acromesomele dysplasie, Maroteaux-Type, zijn de gelaatskenmerken en intelligentie normaal."},"pt":{"name":"Displasia acromesomélica, tipo Grebe","synonyms":["Condrodisplasia, tipo Grebe"],"definition":"Uma displasia acromesomélica autossómica recessiva rara, caracterizada por nanismo grave ao nascimento, anomalias confinadas aos membros, encurtamento e deformidade graves dos ossos longos, fusão ou ausência dos ossos do carpo e do tarso, dedos em forma esférica e, ocasionalmente, polidactilia e ausência de articulações. Tal como acontece com a displasia acromesomélica tipo Hunter-Thomson e a displasia acromesomélica tipo Maroteaux, as características faciais e a inteligência são normais."},"pl":{"name":"Dysplazja akromezomeliczna typu Grebe","synonyms":["Chondrodysplazja, typu Grebe"]},"cs":{"name":"Akromesomelická dysplázie typu Grebe","synonyms":["Chondrodysplázie typu Grebe"]},"uk":{"name":"Акромезотеліальна дисплазія, тип Гребе","synonyms":["Хондродисплазія, тип Гребе"],"definition":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal."},"zh":{"name":"肢端肢中发育不全，Grebe型","synonyms":["软骨发育不全Grebe型"]},"tr":{"name":"Akromezomelik displazi, Grebe tipi","synonyms":["Kondrodisplazi, Grebe tipi"]}},"xrefs":[{"source":"OMIM","code":"200700","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":"2128783945"},{"source":"MONDO","code":"0008703","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8703","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265260","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1300","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":"BMPR1B","name":"bone morphogenetic protein receptor type 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24129431[PMID]","hgnc":"1077","ensembl":"ENSG00000138696","omim":"603248","loci":["4q22.3"]},{"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":null,"hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100387","label":"Aplasia of the middle phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005914","label":"Aplasia/Hypoplasia involving the metacarpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","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:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","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:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null}]}}