{"orpha":2329,"name":"Karsch-Neugebauer syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Split hand/split foot-nystagmus syndrome"],"definition":"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2329/","orphanet_url":"https://www.orpha.net/en/disease/detail/2329","names":{"fr":{"name":"Syndrome de Karsck-Neugebauer","synonyms":["Syndrome de mains et pieds fendus-nystagmus"],"definition":"The syndrome de Karsch-Neugebauer est un syndrome rare associant des anomalies des membres à type de mains et pieds fendus, en pince de homard, et des anomalies oculaires, essentiellement un nystagmus congénital."},"de":{"name":"Karsch-Neugebauer-Syndrom","synonyms":["Spalthand/Spaltfuß - Nystagmus"]},"es":{"name":"Síndrome de Karsck-Neugebauer","synonyms":["Manos y pies hendidos-nistagmo"],"definition":"El síndrome de Karsch-Neugebauer es un síndrome poco frecuente caracterizado por una deformidad de mano y pie hendidos y anomalías oculares, principalmente nistagmo congénito."},"it":{"name":"Sindrome di Karsck-Neugebauer","synonyms":["Schisi delle mani e dei piedi - nistagmo"]},"nl":{"name":"Syndroom van Karsch-Neugebauer","synonyms":["Gespleten hand/gespleten voet - nystagmus-syndroom"],"definition":"Een zeldzaam syndroom, gekenmerkt door gespleten hand en gespleten voet, alsook oculaire anomalieën, vooral congenitale nystagmus."},"pt":{"name":"Síndrome Karsch-Neugebauer","synonyms":["Síndrome de ectrodactilia nas mãos e pés-nistagmo"]},"pl":{"name":"Zespół Karscha i Neugebauera","synonyms":["Rozszczep dłoni/rozszczep stopy - zez"]},"cs":{"name":"Karschův-Neugebauerův syndrom","synonyms":["Syndrom zahrnující rozštěp ruky/rozštěp nohy a nystagmus","Karsch-Neugebauerův syndrom"]},"uk":{"name":"Синдром Карша-Нойгебауера","synonyms":["Синдром ністагму роздвоєної руки/роздвоєної ноги"],"definition":"Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus."},"zh":{"name":"Karsch-Neugebauer综合征","synonyms":["手足分裂畸形-眼球震颤综合征"]},"tr":{"name":"Karsch-Neugebauer sendromu","synonyms":["Bölünmüş el / bölünmüş ayak nistagmus sendromu"]}},"xrefs":[{"source":"OMIM","code":"183800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008466","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866740","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4967","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"9450888[PMID]_23066244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9450888[PMID]_23066244[PMID]"}],"phenotypes":null}