{"orpha":2437,"name":"Czeizel-Losonci syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Split hand with obstructive uropathy, spina bifida and diaphragmatic defects","Split hand-urinary anomalies-spina bifida syndrome"],"definition":"Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2437/","orphanet_url":"https://www.orpha.net/en/disease/detail/2437","names":{"fr":{"name":"Syndrome de Czeizel-Losonci","synonyms":["Syndrome de mains fendues-uropathie-spina bifida-diaphragme anormal"],"definition":"Malformation génétique congénitale extrêmement rare et grave, caractérisée par des mains ou des pieds fendus, une hydronéphrose et un spina bifida. Les malformations rachidiennes et squelettiques étaient une scoliose thoraco-lombaire, un spina bifida (spina bifida occulta ou spina bifida kystique), une hernie diaphragmatique de Bochdalek et des anomalies radiales. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Czeizel-Losonci-Syndrom","synonyms":["Spalthand - Harnwegsanomalien - Spina bifida","Spalthand mit obstruktiver Uropathie, Spina bifida und Zwerchfell-Defekt"]},"es":{"name":"Síndrome de Czeizel-Losonci","synonyms":["Mano hendida con uropatía obstructiva, espina bífida y defectos diafragmáticos","Mano hendida-anomalías urinarias-espina bífida"],"definition":"Es un trastorno malformativo congénito grave, genético y muy poco frecuente, caracterizado por malformación tipo ''mano partida - pie partido'', hidronefrosis y espina bífida. Las manifestaciones espinales y esqueléticas son escoliosis toraco-lumbar, espina bífida (oculta o quística), hernia diafragmática de Bochdalek y anomalías radiales. Desde 1987 no se han publicado nuevos casos en la literatura."},"it":{"name":"Sindrome di Czeizel-Losonci","synonyms":["Schisi della mano - anomalie urinarie - spina bifida","Schisi della mano con uropatia ostruttiva, spina bifida e anomalie del diaframma"],"definition":"La sindrome di Czeizel-Losonci (CLS) è una malattia malformativa congenita grave molto rara, di origine genetica, caratterizzata da schisi della mani/piedi, idronefrosi e spina bifida. I segni clinici a livello spinale e scheletrico comprendono la scoliosi toracolombare, la spina bifida (occulta o cistica), l'erniai diaframmatica di Bochdalek e i difetti radiali. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Syndroom van Czeizel-Losonci","synonyms":["Gespleten hand - urineweganomalieën - spina bifida-syndroom","Gespleten hand met obstructieve uropathie, spina bifida en diafragmadefecten"],"definition":"Syndroom van Czeizel-Losonci (CLS) is een uiterst zeldzame, ernstige, congenitale, genetische malformatie die gekarakteriseerd wordt door gespleten hand/gesleten voet, hydronefrose en spina bifida. Manifestaties aan de wervelkolom en het skelet zijn thoracolumbale scoliose, spina bifida (spina bifida occulta of spina bifida cystica), middenrifbreuk van Bochdalek, en radiale defecten. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Czeizel-Losonci","synonyms":["Síndrome de ectrodactilia das mãos com uropatia obstrutiva, espinha bífida e defeitos diafragmáticos","Síndrome de ectrodactilia das mãos-anomalias urinárias-espinha bífida"]},"pl":{"name":"Zespół Czeizela i Losonci","synonyms":["Rozszczep dłoni - wady układu moczowego - rozszczep kręgosłupa","Rozszep dłoni z uropatią obstrukcyjną, rozszczepem kręgosłupa i wadami przepony"]},"cs":{"name":"Czeizelův-Losonciho syndrom","synonyms":["Rozštěp ruky s obstrukční uropatií, spina bifida a defekty bránice","Syndrom zahrnující rozštěp ruky, anomálie močových cest a spina bifida","Czeizel-Losonciho syndrom"]},"uk":{"name":"Синдром Цейзеля-Лосончі","synonyms":["Розщеплена рука з обструктивною уропатією, розщепленням хребта та дефектами діафрагми","Синдром роздвоєння кисті - аномалій сечовивідної системи - spina bifida"],"definition":"Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987."},"zh":{"name":"Czeizel-Losonci综合征","synonyms":["分裂手伴尿路梗阻，脊柱裂和膈肌缺陷"]},"tr":{"name":"Czeizel-Losonci sendromu","synonyms":["Bölünmüş el-üriner anomaliler-spina bifida sendromu","Obstrüktif üropati, spina bifida ve diyaframatik defektleri olan ayrık el"]}},"xrefs":[{"source":"OMIM","code":"183802","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4969","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]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3308683[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3308683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-06","source":"18935989[PMID]_8074153[PMID]_3308683[PMID]","terms":[{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025193","label":"Posterolateral diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012300","label":"Ureteral agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010704","label":"1-2 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006097","label":"3-4 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009112","label":"Absent left hemidiaphragm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008676","label":"Congenital megaureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001234","label":"Hitchhiker thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008593","label":"Prominent antitragus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010539","label":"Thin calvarium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}