{"orpha":3433,"name":"Microcephaly-brachydactyly-kyphoscoliosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Viljoen-Kallis-Voges syndrome"],"definition":"Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3433/","orphanet_url":"https://www.orpha.net/en/disease/detail/3433","names":{"fr":{"name":"Syndrome de microcéphalie-brachydactylie-déficience intellectuelle","synonyms":["Syndrome de Viljoen-Kallis-Voges"],"definition":"Le syndrome de microcéphalie-brachydactylie-déficience intellectuelle est caractérisé par un déficit intellectuel profond associé à une microcéphalie, une petite taille, une brachydactylie de type D, un occiput plat, des fentes palpébrales anti-mongoloïdes, de grandes oreilles bas implantées, un nez large et proéminent et une cyphoscoliose. Il a été décrit chez trois soeurs. La transmission est probablement de type autosomique récessive."},"de":{"name":"Mikrozephalie-Brachydaktylie-Kyphoskoliose-Syndrom","synonyms":["Viljoen-Kallis-Voges-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch erhebliche Intelligenzminderung, Mikrozephalie, Kleinwuchs, Brachydaktylie Typ D, flachen Hinterkopf, anti-mongoloide Lidachsen, tiefsitzende Ohren, breite prominente Nase und Kyphoskoliose."},"es":{"name":"Síndrome de microcefalia-braquidactilia-cifoescoliosis","synonyms":["Síndrome de Viljoen-Kallis-Voges"],"definition":"Es un síndrome caracterizado por: discapacidad intelectual profunda asociada a microcefalia, talla baja, braquidactilia tipo D, occipucio plano, fisuras palpebrales descendentes, orejas grandes de implantación baja, nariz ancha prominente y cifoescoliosis. El síndrome se ha descrito en tres hermanas. Es probable que la enfermedad se transmita con carácter autosómico recesivo."},"it":{"name":"Microcefalia - brachidattilia - cifoscoliosi","synonyms":["Sindrome di Viljoen-Kallis-Voges"]},"nl":{"name":"Microcefalie - brachydactylie - kyfoscoliose-syndroom","synonyms":["Syndroom van Viljoen-Kallis-Voges"],"definition":"Een syndroom, gekenmerkt door zeer ernstige intellectuele achterstand in associatie met microcefalie, kleine gestalte, brachydactylie type D, plat achterhoofd, schuin naar beneden hellende ooglidspleten, laagstaande en grote oren, brede en prominente neus, en kyfoscoliose. Het werd beschreven bij drie zussen. De aandoening wordt waarschijnlijk overgedragen als een autosomaal recessief kenmerk."},"pt":{"name":"Síndrome de microcefalia-braquidactilia-cifoscoliose","synonyms":["Síndrome Viljoen-Kallis-Voges"]},"pl":{"name":"Małogłowie - brachydaktylia - kifoskolioza","synonyms":["Zespół Viljoena, Kallisa i Vogesa"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, brachydaktylii a kyfoskoliózu","synonyms":["Viljoenův-Kallisův-Vogesův syndrom","Viljoen-Kallis-Vogesův syndrom"]},"uk":{"name":"Синдром мікроцефалії-брахідактилії-кіфосколіозу","synonyms":["Синдром Вілджоена-Калліса-Вогеса"],"definition":"Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait."},"zh":{"name":"小头-短指（趾）-脊柱后凸侧弯综合征","synonyms":["Viljoen-Kallis-Voges 综合征"]},"tr":{"name":"Mikrosefali-brakidaktili-kifoskolyoz sendromu","synonyms":["Viljoen-Kallis-Voges sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018091","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931177","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5490","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1884519[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1884519[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-19","source":"1884519[PMID]","terms":[{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003413","label":"Atlantoaxial abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005620","label":"Hypermobility of interphalangeal joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Frequent (79-30%)","criteria":null}]}}