{"orpha":2496,"name":"Mesomelia-synostoses syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["8q13 microdeletion syndrome","Del(8)q(13)","Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type","Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type","Monosomy 8q13","Verloes-David syndrome"],"definition":"A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2496/","orphanet_url":"https://www.orpha.net/en/disease/detail/2496","names":{"fr":{"name":"Syndrome de mésomélie-synostoses","synonyms":["Del(8)q(13)","Dysplasie mésomélique avec synostoses acrales type Verloes-David-Pfeiffer","Monosomie 8q13","Syndrome de Verloes-David","Syndrome de microdélétion 8q13","Syndrome de mésomélie-synostoses type Verloes-David-Pfeiffer"],"definition":"Ostéochondrodysplasie syndromique rare caractérisée par une mésomélie progressive et une fusion osseuse des membres, des traits de visage caractéristiques et des anomalies du voile du palais."},"de":{"name":"Mesomelie-Synostosen-Syndrom","synonyms":["Del(8)q(13)","Mesomele Dysplasie mit akralen Synostosen vom Verloes-David-Pfeiffer Typ","Mesomelie-Synostosen-Syndrom Typ Verloes-David-Pfeiffer","Monosomie 8q13","Verloes-David-Syndrom"],"definition":"Eine seltene syndromale Osteochondrodysplasie, die durch fortschreitende Mesomelie und knöcherne Fusionen in den Extremitäten, eine ausgeprägte Gesichtsform und Anomalien des weichen Gaumens gekennzeichnet ist."},"es":{"name":"Síndrome de mesomelia-sinostosis","synonyms":["Del(8)q(13)","Displasia mesomélica con sinostosis acral, tipo Verloes-David-Pfeiffer","Monosomía 8q13","Síndrome de Verloes-David","Síndrome de mesomelia-sinostosis, tipo Verloes-David-Pfeiffer","Síndrome de microdeleción 8q13"],"definition":"Es una osteocondrodisplasia sindrómica poco frecuente caracterizada por mesomelia progresiva y fusiones óseas en las extremidades, apariencia facial característica y anomalías del paladar blando."},"it":{"name":"Sindrome mesomelia-sinostosi","synonyms":["Del(8)q(13)","Displasia mesomelica con sinostosi acrali, tipo Verloes-David-Pfeiffer","Monosomia 8q13","Sindrome da microdelezione 8q13","Sindrome di Verloes-David","Sindrome mesomelia-sinostosi, tipo Verloes-David-Pfeiffer"],"definition":"La sindrome mesomelia-sinostosi (MSS) è un'osteocondrodisplasia sindromica rara, caratterizzata da mesomelia progressiva, fusione delle ossa degli arti, facies tipica e anomalie del palato molle."},"nl":{"name":"Mesomelie - synostosen-syndroom","synonyms":["8q13-microdeletiesyndroom","Del(8)q(13)","Mesomele dysplasie met acrale synostosen, Verloes-David-Pfeiffer-type","Mesomelie - synostosen-syndroom, Verloes-David-Pfeiffer-type","Monosomie 8q13","Syndroom van Verloes-David"],"definition":"Een zeldzame syndromale osteochondrodysplasie, gekenmerkt door progressieve mesomelie en fusies van bot in extremiteiten, typisch gelaat, en anomalieën van zacht gehemelte."},"pt":{"name":"Síndrome de mesomelia-sinostoses","synonyms":["Monossomia 8q13","Síndrome Verloes-David","Síndrome de mesomelia-sinostoses, tipo Verloes-David-Pfeiffer"],"definition":"Osteocondrodisplasia sindrómica rara caracterizada por mesomélia progressiva e fusões ósseas nas extremidades, morfometria facial distinta e anomalias do palato mole."},"pl":{"name":"Zespół mezomelia-synostoza","synonyms":["Del(8)q(13)","Dysplazja mezomeliczna z synostozą kończynową, typu Verloesa, Davida i Pfeiffera","Monosomia 8q13","Zespół mezomelia-synostoza, typu Verloesa, Davida i Pfeiffera","Zespół mikrodelecji 8q13","Zespół Verloesa i Davida"]},"cs":{"name":"Syndrom zahrnující mezomelii a synostózy","synonyms":["Del(8)q(13)","Monozomie 8q13","8q13 mikrodeleční syndrom","Syndrom zahrnující mezomelii a synostózy, Verloesův-Davidův-Pfeifferův typ","Mezomelická dysplázie s akrálními synostózami, Verloesův-Davidův-Pfeifferův typ","Verloesův-Davidův syndrom","Syndrom zahrnující mezomelii a synostózy, Verloes-David-Pfeifferův typ","Mezomelická dysplázie s akrálními synostózami, Verloes-David-Pfeifferův typ","Verloes-Davidův syndrom"]},"uk":{"name":"Синдром мезомелії-синостозів","synonyms":["Синдром мікроделеції 8q13","Del(8)q(13)","Синдром мезомелії-синостозів, тип Верлоеса-Давида-Пфайффера","Мезомелічна дисплазія з акральними синостозами, тип Верлоеса-Давида-Пфайфера","Моносомія 8q13","Синдром Верлоєса-Давида"],"definition":"A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies."},"zh":{"name":"Mesomelia-synostoses综合征","synonyms":["肢中骨发育不良伴肢端骨性结合Verloes-David-Pfeiffer型"]},"tr":{"name":"Mezomeli-sinostoz sendromu","synonyms":["Del (8) q (13)","Monozomi 8q13","Verloes-David sendromu","8q13 mikrodelesyon sendromu","Mezomeli-sinostoz sendromu, Verloes-David-Pfeiffer tipi","Akral sinostozlu mezomelik displazi, Verloes-David-Pfeiffer tipi"]}},"xrefs":[{"source":"OMIM","code":"600383","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2078019214"},{"source":"MONDO","code":"0010881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537348","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838162","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4302","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93437,"name":"Acromesomelic dysplasia","classifications":[147,156,199]},{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"30450550[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19725128[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-11","source":null,"terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010293","label":"Aplasia/Hypoplasia of the uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","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:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001440","label":"Metatarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}