{"orpha":1147,"name":"Sheldon-Hall syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DA2B","Distal arthrogryposis multiplex congenita type 2B","Distal arthrogryposis type 2B","Freeman-Sheldon syndrome variant","SSH"],"definition":"A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1147/","orphanet_url":"https://www.orpha.net/en/disease/detail/1147","names":{"fr":{"name":"Syndrome de Sheldon-Hall","synonyms":["Arthrogrypose distale type 2B","Arthrogrypose distale type II","Arthrogrypose multiple congénitale type 2B","DA2B","SHS","Syndrome de Freeman-Sheldon variant"],"definition":"Forme d'arthrogrypose distale caractérisée par de multiples contractures congénitales non progressives des articulations distales des membres, en l'absence d'une maladie neurologique et/ou musculaire primaire, et par des traits faciaux caractéristiques, à savoir visage triangulaire, fentes palpébrales inclinées vers le bas, une petite bouche et un palais ogival."},"de":{"name":"Sheldon-Hall-Syndrom","synonyms":["Arthrogrypose, distale, Typ 2B","DA2B","Distale Arthrogryposis multiplex congenita Typ 2B","Freeman-Sheldon-Syndrom (Variante)","SSH"],"definition":"Eine Form der distalen Arthrogrypose, die durch mehrere angeborene, nicht fortschreitende Kontrakturen der distalen Gelenke der Gliedmaßen gekennzeichnet ist, ohne dass eine primäre neurologische und/oder Muskelerkrankung vorliegt, sowie durch ausgeprägte Gesichtsmerkmale wie eine dreieckige Gesichtsform, nach unten verlaufende Lidspalten, einen kleinen Mund und einen hochgewölbten Gaumen."},"es":{"name":"Síndrome de Sheldon-Hall","synonyms":["AD2B","Artrogriposis distal tipo 2B","Artrogriposis múltiple congénita distal tipo 2B","Variante del síndrome de Freeman-Sheldon"],"definition":"Es una forma de artrogriposis distal caracterizada por múltiples contracturas congénitas no progresivas de las articulaciones distales de las extremidades, en ausencia de afectación neurológica y/o muscular primaria, y rasgos faciales distintivos, como cara de forma triangular, fisuras palpebrales de inclinación descendente, boca pequeña y paladar ojival."},"it":{"name":"Sindrome di Sheldon-Hall","synonyms":["Artrogriposi distale, tipo 2B","Variante della sindrome di Freeman-Sheldon","Artrogriposi distale multipla congenita tipo 2B","SSH","Artrogriposi distale tipo 2B","DA2B"]},"nl":{"name":"Syndroom van Sheldon-Hall","synonyms":["DA2B","Distale arthrogryposis multiplex congenita type 2B","Distale artrogrypose type 2B","SSH","Variant van syndroom van Freeman-Sheldon"],"definition":"Een vorm van distale artrogrypose, gekenmerkt door multipele congenitale niet-progressieve contracturen van de distale gewrichten van de ledematen, in afwezigheid van een primaire neurologische en/of spierziekte, en typische gelaatskenmerken, zoals een driehoekig aangezicht, schuin naar beneden hellende ooglidspleten, kleine mond en hoog gebogen gehemelte."},"pt":{"name":"Síndrome Sheldon-Hall","synonyms":["Artrogripose distal múltipla complexa tipo 2B","Artrogripose distal tipo 2B","DA2B","SSH","Síndrome Freeman-Sheldon variante"]},"pl":{"name":"Zespół Sheldona i Hall","synonyms":["Artrogrypoza dystalna typu 2B","Wariant zespołu Freemana i Sheldona"]},"cs":{"name":"Sheldonův-Hallův syndrom","synonyms":["Distální artrogrypóza, typ IIb","Sheldon-Hallův syndrom"]},"uk":{"name":"Синдром Шелдона-Холла","synonyms":["Дистальний артрогрипоз, тип 2B","Варіант синдрому Фрімана-Шелдона"],"definition":"Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."},"zh":{"name":"Sheldon-Hall综合征","synonyms":["Freeman-Sheldon综合征变异型"]},"tr":{"name":"Sheldon-Hall sendromu","synonyms":["Distal artrogripozis tip 2B","Freeman-Sheldon sendromu varyantı"]}},"xrefs":[{"source":"OMIM","code":"108120","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601680","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616266","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618436","qualifier":"BTNT","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":"1206883656"},{"source":"MONDO","code":"0011128","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834523","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":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]_16642020[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]},{"symbol":"NALCN","name":"sodium leak channel, non-selective","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683120[PMID]","hgnc":"19082","ensembl":"ENSG00000102452","omim":"611549","loci":["13q32.3-q33.1"]},{"symbol":"TNNI2","name":"troponin I2, fast skeletal type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"11946","ensembl":"ENSG00000130598","omim":"191043","loci":["11p15.5"]},{"symbol":"TNNT3","name":"troponin T3, fast skeletal type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"11950","ensembl":"ENSG00000130595","omim":"600692","loci":["11p15.5"]},{"symbol":"TPM2","name":"tropomyosin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23401156[PMID]","hgnc":"12011","ensembl":"ENSG00000198467","omim":"190990","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"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:0001181","label":"Adducted thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","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: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:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100830","label":"Round ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003049","label":"Ulnar deviation of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}