{"orpha":3237,"name":"Multiple synostoses syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Deafness-Hermann type symphalangism syndrome","Facio-audio-symphalangism","Hearing loss-Hermann type symphalangism syndrome","Symphalangism-brachydactyly syndrome","WL syndrome"],"definition":"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3237/","orphanet_url":"https://www.orpha.net/en/disease/detail/3237","names":{"fr":{"name":"Syndrome des synostoses multiples","synonyms":["Syndrome WL","Syndrome de surdité-symphalangie type Hermann","Syndrome de symphalangie-brachydactylie","Facio-audio-symphalangie"],"definition":"Le syndrome des synostoses multiples est un trouble du développement osseux rare caractérisé par un symphalangisme proximal des doigts et/ou des orteils souvent associé à la fusion des articulations carpiennes, tarsiennes, huméro-radiales et de la colonne vertébrale."},"de":{"name":"Multiple Synostosen","synonyms":["Fazio-audio-Symphalangie","Schwerhörigkeit - Symphalangie-Syndrom, Typ Hermann","Symphalangie - Brachydaktylie","WL-Syndrom"]},"es":{"name":"Síndrome de sinostosis múltiple","synonyms":["Facio-audio-sinfalangismo","Sinfalangismo-braquidactilia","Síndrome WL","Síndrome de WL","Síndrome de hipoacusia-sinfalangismo tipo Hermann","Síndrome de sordera-sinfalangismo tipo Hermann"],"definition":"El síndrome de sinostosis múltiple (MSS) es un trastorno óseo del desarrollo poco frecuente caracterizado por sinfalangismo proximal de los dedos de las manos y/o de los pies, a menudo asociado con la fusión de las articulaciones de la columna cervical , carpo-tarsal y humeroradial."},"it":{"name":"Sindrome da sinostosi multiple","synonyms":["Facio-audio-sinfalangismo","Sindrome WL","Sindrome sordità-sinfalangismo, tipo Hermann","Sinfalangismo - brachidattilia"]},"nl":{"name":"Meervoudige synostosen-syndroom","synonyms":["Doofheid - symfalangisme syndroom, Hermann-type","Facio-audio-symfalangisme","Symfalangisme - brachydactylie-syndroom","WL-syndroom"],"definition":"Meervoudige synostosensyndroom (MSS) is een zeldzame ontwikkelingsstoornis van het bot, gekenmerkt door een proximaal symfalangisme van de vingers en/of tenen dat vaak gepaard gaat met een fusie van carpale en tarsale, humeroradiale en cervicale wervelkolom-gewrichten."},"pt":{"name":"Síndrome de sinostoses múltiplas","synonyms":["Facio-audio-sinfalangia","Síndrome WL","Síndrome de perda auditiva-sinfalangia de Hermann","Síndrome de sinfalangia-braquidactilia","Síndrome de surdez-sinfalangia de Hermann"]},"pl":{"name":"Zespół mnogich kościozrostów","synonyms":["Facio-audio-symphalangism","Symfalangizm-brachydaktylia","Zespół głuchota - symfalangizm typu Hermanna","Zespół WL"]},"cs":{"name":"Syndrom mnohočetných synostóz","synonyms":["Facioaudiosymfalangismus","Syndrom zahrnující symfalangismus a brachydaktylii","WL syndrom","Syndrom zahrnující hluchotu a Hermannův typ symfalangismu"]},"uk":{"name":"Синдром множинних синостозів","synonyms":["Синдром симфалангізму типу глухоти-Германа","Фаціо-аудіо-симфалангізм","Синдром втрати слуху - симфалангізм типу Германа","Синдром симфалангізму-брахідактилії","Синдром WL"],"definition":"Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints."},"zh":{"name":"多发骨性结合综合征","synonyms":["听力丧失-Hermann型指（趾）关节粘连综合征"]},"tr":{"name":"Çoklu sinostoz sendromu","synonyms":["WL sendromu","Fasiyo-audio-semfalangizm","Semfalangizm-brakidaktili sendromu","Sağırlık-Hermann tipi semfalangizm sendromu","İşitme kaybı-Hermann tipi semfalangizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"186500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610017","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612961","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617898","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"248917534"},{"source":"MONDO","code":"0017923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175700","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","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) (gain of function) in","status":"Assessed","source":"16532400[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]},{"symbol":"FGF9","name":"fibroblast growth factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19589401[PMID]","hgnc":"3687","ensembl":"ENSG00000102678","omim":"600921","loci":["13q12.11"]},{"symbol":"GDF6","name":"growth differentiation factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29130651[PMID]","hgnc":"4221","ensembl":"ENSG00000156466","omim":"601147","loci":["8q22.1"]},{"symbol":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20503332[PMID]_25241334[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"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":"2017-10-17","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","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:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null}]}}