{"orpha":157801,"name":"Mesoaxial synostotic syndactyly with phalangeal reduction","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["MSSD","Syndactyly type 9","Syndactyly, Malik-Percin type"],"definition":"A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157801/","orphanet_url":"https://www.orpha.net/en/disease/detail/157801","names":{"fr":{"name":"Syndactylie mésoaxiale synostosique avec réduction phalangienne","synonyms":["MSSD","Syndactylie type 9","Syndactylie type Malik-Percin"],"definition":"La syndactylie méso-axiale synostosique avec réduction phalangienne est un nouveau type de syndactylie non-syndromique comportant une syndactylie complète des 3es et 4es doigts avec des synostoses des métacarpiens correspondants et des phalanges uniques, une syndactylie des 2es et 3es orteils et une clinodactylie du 5e doigt."},"de":{"name":"Mesoaxiale synostotische Syndaktylie mit phalangealer Reduktion","synonyms":["Syndaktylie Typ 9","Syndaktylie Typ Malik-Percin"],"definition":"Eine seltene nicht-syndromale Syndaktylie, die durch eine mesoaxiale Reduktion der Finger, eine vollständige Syndaktylie des 3. und 4. Fingers mit Synostosen der entsprechenden Mittelhandknochen und assoziierten Einzelphalangen, fehlgebildete Daumen sowie Hypoplasie und Klinodaktylie des 5. Fingers gekennzeichet ist. Es wurde über eine präaxiale Verflechtung der Zehen mit einer Hypoplasie der Endphalanx aller Zehen berichtet."},"es":{"name":"Sindactilia mesoaxial sinostótica con reducción de las falanges","synonyms":["MSSD","Sindactilia tipo 9","Sindactilia tipo Malik-Percin"],"definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por la reducción mesoaxial de los dedos, sindactilia completa del tercer y cuarto dedos de la mano con sinostosis de los metacarpianos correspondientes y falanges únicas asociadas, pulgares malformados e hipoplasia y clinodactilia del quinto dedo. Se ha descrito asociación con membranas preaxiales e hipoplasia de la falange terminal de todos los dedos de los pies."},"it":{"name":"Sindattilia sinostosica mesoassiale con riduzione delle falangi","synonyms":["MSSD","Sindattilia, tipo 9","Sindattilia, tipo Malik-Percin"]},"nl":{"name":"Mesoaxiale synostotische syndactylie met falangeale reductie","synonyms":["MSSD","Syndactylie type 9","Syndactylie, Malik-Percin-type"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door mesoaxiale reductie van vingers, volledige syndactylie van de 3de en 4de vingers met synostose van de overeenkomstige metacarpalen en geassocieerde enkelvoudige falangen, misvormde duimen, en hypoplasie en clinodactylie van de 5de vinger. Associatie met preaxiale syndactylie van tenen met hypoplasie van terminale falangen van alle tenen werd reeds gerapporteerd."},"pt":{"name":"Sindactilia sinostótica mesoaxial com redução das falanges","definition":"A sindactilia sinostótica mesoaxial (MSSD) com redução da falange é uma forma nova e distinta de sindactilia não-sindrómica incluindo sindactilia completa dos 3º e 4º dedos das mãos com sinostoses dos metacarpos correspondentes e falanges únicas associadas, sindactilia dos 2º e 3º dedos dos pés e clinodactilia do 5º dedo da mão."},"pl":{"name":"Syndaktylia międzyosiowa ze skróceniem paliczków","synonyms":["MSSD","Syndaktylia typu 9","Syndaktylia, typ Malika i Percina"]},"cs":{"name":"Mesoaxiální synostotická syndaktylie s redukcí falangů","synonyms":["MSSD","Syndaktylie, typ 9","Syndaktylie, typ Malikův-Percinové","Syndaktylie, typ Malik-Percinové"]},"uk":{"name":"Мезоаксіальна синостотична синдактилія з редукцією фаланг пальців","synonyms":["MSSD","Синдактилія типу 9","Синдактилія, тип Маліка-Персена"],"definition":"A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association."},"zh":{"name":"骨性融合并指联合指骨骨量减少症","synonyms":["并指Malik-Percin型"],"definition":"中轴骨连结并指趾（MSSD）伴指减少是一种新的、独特的非综合征性并指趾畸形，包括第3、4指完全性并指，同时伴有相应的掌骨连结，单指趾骨以及第2、3趾和第5指侧弯。"},"tr":{"name":"Falangeal redüksiyon ile seyreden mezoaksiyal sinostotik sindaktili","synonyms":["MSSD","Sindaktili tip 9","Sindaktili, Malik-Percin tipi"]}},"xrefs":[{"source":"OMIM","code":"609432","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1594350670"},{"source":"MONDO","code":"0012271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836206","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10590","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90025,"name":"Non-syndromic syndactyly","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BHLHA9","name":"basic helix-loop-helix family member a9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25466284[PMID]","hgnc":"35126","ensembl":"ENSG00000205899","omim":"615416","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25466284[PMID]"},{"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":"2016-06-01","source":"9783716[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008362","label":"Aplasia/Hypoplasia of the hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009843","label":"Aplasia/Hypoplasia of the middle phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009701","label":"Metacarpal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","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:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null}]}}