{"orpha":3377,"name":"Trismus-pseudocamptodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal arthrogryposis type 7","Dutch-Kentucky syndrome","Hecht syndrome","Hecht-Beals syndrome"],"definition":"A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3377/","orphanet_url":"https://www.orpha.net/en/disease/detail/3377","names":{"fr":{"name":"Syndrome de trismus-pseudocamptodactylie","synonyms":["Arthrogrypose distale type 7","Syndrome de Dutch-Kentucky","Syndrome de Hecht","Syndrome de Hecht-Beals"],"definition":"Arthrogrypose distale génétique rare caractérisée par une pseudocamptodactylie, de légères déformations du pied, une petite taille de forme modérée et des muscles et tendons courts entraînant une limitation d'amplitude de mouvement des mains, des jambes et de la bouche, cette dernière présentant un trismus."},"de":{"name":"Trismus - Pseudokamptodaktylie","synonyms":["Arthrogrypose, distale, Typ 7","Dutch-Kentucky-Syndrom","Hecht-Beals-Syndrom","Hecht-Syndrom"]},"es":{"name":"Síndrome de trismo-pseudocamptodactilia","synonyms":["Artrogriposis distal tipo 7","Síndrome de Dutch-Kentucky","Síndrome de Hecht","Síndrome de Hecht-Beals"],"definition":"Es una artrogriposis distal, genética y poco frecuente, caracterizada por pseudo-camptodactilia, leves deformidades del pie, talla moderadamente baja y acortamiento de músculos y tendones que resultan en una limitación en el rango de movimiento de las manos, piernas y boca, que evoluciona posteriormente a trismo."},"it":{"name":"Sindrome da trisma e pseudocamptodattilia","definition":"È un'artrogriposi distale genetica rara, caratterizzata da pseudocamptodattilia, lievi deformità del piede, statura moderatamente bassa e muscoli e tendini corti, che causano una riduzione dei movimenti delle mani, delle gambe e della bocca, che presenta trisma."},"nl":{"name":"Trismus - pseudocamptodactylie","synonyms":["Distale artrogrypose type 7","Dutch-Kentuckysyndroom","Hecht-Bealssyndroom","Hechtsyndroom"],"definition":"Een zeldzame, genetische, distale artrogrypose die gekarakteriseerd wordt door pseudocamptodactylie, mild misvormingen van de voet, matig kleine gestalte, en korte spieren en pezen met beperkt bewegingsbereik van de handen, benen en mond tot gevolg, waarbij deze laatste zich presenteert met trismus (mondklem)."},"pt":{"name":"Síndrome de trismo-pseudocamptodactilia","synonyms":["Artrogripose distal tipo 7","Síndrome Dutch-Kentucky","Síndrome Hecht","Síndrome Hecht-Beals"]},"pl":{"name":"Szczękościsk - pseudokamptodaktylia","synonyms":["Artrogrypoza dystalna typu 7","Zespół Dutch i Kentucky","Zespół Hechta","Zespół Hechta i Bealsa"]},"cs":{"name":"Syndrom zahrnující trismus s pseudokamptodaktylii","synonyms":["Distální artrogrypóza, typ 7","Holandsko-kentucký syndrom","Hechtův syndrom","Hechtův-Bealsův syndrom","Hecht-Bealsův syndrom"]},"uk":{"name":"Синдром тризму-псевдокампактодактилії","synonyms":["Дистальний артрогрипоз, тип 7","Синдром Голландського-Кентуккі","Синдром Гехта","Синдром Гехта-Білза"],"definition":"A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus."},"zh":{"name":"牙关紧闭-假性先天性指屈曲综合征","synonyms":["远端关节挛缩7型"]},"tr":{"name":"Trismus-psödokamptodaktili sendromu","synonyms":["Hecht sendromu","Hecht-Beals sendromu","Dutch-Kentucky sendromu","Distal artrogripozis tip 7"]}},"xrefs":[{"source":"OMIM","code":"158300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1929876169"},{"source":"MONDO","code":"0008016","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265226","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2621","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]}],"children":[],"genes":[{"symbol":"MYH8","name":"myosin heavy chain 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17041932[PMID]_18049072[PMID]","hgnc":"7578","ensembl":"ENSG00000133020","omim":"160741","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","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:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null}]}}