{"orpha":115,"name":"Congenital contractural arachnodactyly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Beals syndrome","Beals-Hecht syndrome","CCA syndrome","Distal arthrogryposis type 9"],"definition":"A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-115/","orphanet_url":"https://www.orpha.net/en/disease/detail/115","names":{"fr":{"name":"Arachnodactylie congénitale avec contractures","synonyms":["Arthrogrypose distale type 9","Syndrome CCA","Syndrome de Beals","Syndrome de Beals-Hecht"],"definition":"Maladie rare du tissu conjonctif caractérisée par de multiples contractures en flexion, une arachnodactylie, une cyphoscoliose, une anomalie des pavillons de l'oreille et une hypoplasie musculaire."},"de":{"name":"Arachnodaktylie, kongenitale kontrakturale","synonyms":["Arthrogrypose, distale, Typ 9","Beals-Hecht-Syndrom","Beals-Syndrom","CCA-Syndrom"],"definition":"Eine seltene Bindegewebsstörung, die durch multiple Beugekontrakturen, Arachnodaktylie, Kyphoskoliose, abnorme Ohrmuscheln und Muskelhypoplasie gekennzeichnet ist."},"es":{"name":"Aracnodactilia congénita contractural","synonyms":["Artrogriposis distal tipo 9","Síndrome ACC","Síndrome de Beals","Síndrome de Beals-Hecht"],"definition":"Es un trastorno poco frecuente del tejido conectivo caracterizado por múltiples contracturas en flexión, aracnodactilia, cifoescoliosis, pabellones auriculares anómalos e hipoplasia muscular."},"it":{"name":"Sindrome contratture-aracnodattilia congenita","synonyms":["Artrogriposi distale, tipo 9","Sindrome CCA","Sindrome di Beals","Sindrome di Beals-Hecht"]},"nl":{"name":"Congenitale contracturele arachnodactylie","synonyms":["CCA-syndroom","Distale artrogrypose type 9","Syndroom van Beals","Syndroom van Beals-Hecht"],"definition":"Een zeldzame aandoening van bindweefsel, gekenmerkt door multipele flexiecontracturen, arachnodactylie, kyfoscoliose, abnormale oorschelpen, en spierhypoplasie."},"pt":{"name":"Aracnodactilia contratural congénita","synonyms":["Artrogripose distal tipo 9","Síndrome Beals","Síndrome Beals-Hecht","Síndrome CCA"],"definition":"Uma doença rara do tecido conjuntivo caracterizada por múltiplas contraturas de flexão, aracnodactilia, cifoescoliose, pavilhões auriculares anómalos e hipoplasia muscular."},"pl":{"name":"Wrodzona archanodaktylia z przykurczami","synonyms":["Artrogrypoza dystalna typu 9","Zespół Bealsa","Zespół Bealsa i Hechta","Zespół CCA"]},"cs":{"name":"Vrozená arachnodaktylie s kontrakturami","synonyms":["CCA syndrom","Distální artrogrypóza, typ IX","Bealsův syndrom","Bealsův-Hechtův syndrom","Beals-Hechtův syndrom"]},"uk":{"name":"Вроджена контрактурна арахнодактилія","synonyms":["Синдром Білса","Синдром Білса-Хета","Синдром ССС","Дистальний артрогрипоз, тип 9"],"definition":"A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia."},"zh":{"name":"先天性挛缩型蜘蛛状指","synonyms":["9型远端关节挛缩"]},"tr":{"name":"Doğumsal kontraktürel araknodaktili","synonyms":["CCA sendromu","Beals sendromu","Beals-Hecht sendromu","Distal artrogripozis tip 9"]}},"xrefs":[{"source":"OMIM","code":"121050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1376425921"},{"source":"MONDO","code":"0007363","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536211","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220668","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5899","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FBN2","name":"fibrillin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301560[PMID]","hgnc":"3604","ensembl":"ENSG00000138829","omim":"612570","loci":["5q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["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:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008544","label":"Abnormally folded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008453","label":"Congenital kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009901","label":"Crumpled ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}