{"orpha":3439,"name":"Von Voss-Cherstvoy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DK phocomelia syndrome","Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome"],"definition":"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3439/","orphanet_url":"https://www.orpha.net/en/disease/detail/3439","names":{"fr":{"name":"Syndrome de von Voss-Cherstvoy","synonyms":["Syndrome DK phocomélie","Syndrome de phocomélie-thrombocytopénie-encéphalocèle-malformations urogénitales"],"definition":"Le syndrome de von Voss-Cherstvoy est un syndrome exceptionnel associant phocomélie des membres supérieurs, méningoencephalocèle, anomalies urogénitales et thrombocytopénie."},"de":{"name":"Von-Voss-Cherstvoy-Syndrom","synonyms":["DK-Phokomelie-Syndrom","Phokomelie - Thrombozytopenie - Enzephalozele - urogenitale Fehlbildungen"],"definition":"Das Von Voss-Cherstvoy-Syndrom ist sehr selten und gekennzeichnet durch Phokomelie der oberen Gliedmaßen, Encephalocele, verschiedene Hirnfehlbildungen, Anomalien des Urogenitaltraktes und Thrombozytopenie."},"es":{"name":"Síndrome de Von Voss-Cherstvoy","definition":"Es un trastorno muy poco frecuente caracterizado por: focomelia de las extremidades superiores, encefalocele, anomalías cerebrales variables, anomalías urogenitales y trombocitopenia."},"it":{"name":"Sindrome di Von Voss-Cherstvoy","synonyms":["Focomelia - trombocitopenia - encefalocele - malformazioni urogenitali","Sindrome DK focomelia"]},"nl":{"name":"Syndroom van von Voss-Cherstvoy","synonyms":["DK-focomeliesyndroom","Focomelie - trombocytopenie - encefalocele - urogenitale malformaties-syndroom"],"definition":"Een zeer zeldzame aandoening, gekenmerkt door focomelie van bovenste ledematen, encefalocele, variabele hersenanomalieën, urogenitale afwijkingen, en trombocytopenie."},"pt":{"name":"Síndrome von Voss-Cherstvoy","synonyms":["Síndrome de focomelia-trombocitopenia-encefalocelo-malformações urogenitais","Síndrome focomelia DK"],"definition":"A síndrome de von Voss-Cherstvoy é uma doença muito rara, com focomelia dos membros superiores, encefalocelo, anomalias cerebrais variáveis, anomalias urogenitais e trombocitopenia."},"pl":{"name":"Zespół Von Vossa i Cherstvoy'a","synonyms":["Fokomelia - trombocytopenia - przepuklina mózgowa - wady układu moczowo-płciowego","Zespół fokomelii DK"]},"cs":{"name":"Von Voss Cherstvoyův syndrom","synonyms":["Syndrom fokomélie DK","Syndrom zahrnující fokomélii, trombocytopenii, encefalokélu a urogenitální malformace"]},"uk":{"name":"Синдром фон Фосса-Черствого","synonyms":["Синдром фокомелії ДК","Синдром фокомелії-тромбоцитопенії-енцефалоцеле-урогенітальних вад розвитку"],"definition":"Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia."},"zh":{"name":"Von Voss-Cherstvoy综合征","synonyms":["海豹肢-血小板减少-脑膨出-泌尿生殖器畸形"]},"tr":{"name":"Von Voss-Cherstvoy sendromu","synonyms":["DK phocomelia sendromu","Phocomelia-trombositopeni-ensefalosel-ürogenital malformasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"223340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009121","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857226","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1894","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"DOI:10.2147/IMCRJ.S108746[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI:10.2147/IMCRJ.S108746[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-10","source":"21358540[PMID]_25899150[PMID]_27499650[PMID]","terms":[{"hpo":"HP:0006496","label":"Aplasia/hypoplasia involving bones of the upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009813","label":"Upper limb phocomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null}]}}