{"orpha":3258,"name":"Cenani-Lenz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cenani syndactyly","Cenani-Lenz syndactyly","Syndactyly type 7"],"definition":"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3258/","orphanet_url":"https://www.orpha.net/en/disease/detail/3258","names":{"fr":{"name":"Syndrome de Cenani-Lenz","synonyms":["Syndactylie de Cenani","Syndactylie de Cenani-Lenz","Syndactylie type 7"],"definition":"Le syndrome de Cenani-Lenz (SCL) est un syndrome malformatif congénital qui associe une syndactylie complexe des mains avec des malformations de l'avant-bras, et des manifestations similaires au niveau des membres inférieurs."},"de":{"name":"Cenani-Lenz-Syndaktylie","synonyms":["Cenani-Lenz-Syndrom","Cenani-Syndaktylie","Syndaktylie Typ 7","Syndaktylie Typ Cenani-Lenz"],"definition":"Das Cenani-Lenz-Syndrom (CLS) ist ein Syndrom mit angeborenen Fehlbildungen und gekennzeichnet durch komplexe Syndaktylie der Finger mit Fehlbildungen der Unterarmknochen und ähnlichen Fehlbildungen an den unteren Gliedmaßen."},"es":{"name":"Síndrome de Cenani-Lenz","synonyms":["Sindactilia de Cenani","Sindactilia de Cenani-Lenz","Sindactilia tipo 7"],"definition":"El síndrome de Cenani-Lenz (SCL) es un síndrome malformativo congénito que asocia sindactilia compleja de manos con malformaciones óseas en el antebrazo y manifestaciones similares en las extremidades inferiores."},"it":{"name":"Sindrome di Cenani-Lenz","synonyms":["Sindattilia di Cenani","Sindattilia di Cenani-Lenz","Sindattilia, tipo 7"],"definition":"La sindrome di Cenani-Lenz (CLS) è una condizione malformativa congenita, caratterizzata da sindattilia complessa delle mani associata a malformazioni delle ossa dell'avanbraccio e analoghe anomalie agli arti inferiori."},"nl":{"name":"Syndroom van Cenani-Lenz","synonyms":["Syndactylie type 7","Syndactylie van Cenani","Syndactylie van Cenani-Lenz"],"definition":"Syndroom van Cenani-Lenz (CLS) is een congenitaal malformatiesyndroom dat een complexe syndactylie van handen associeert met malformaties van beenderen van de onderarm en gelijkaardige manifestaties in onderste ledematen."},"pt":{"name":"Síndrome Cenani-Lenz","synonyms":["Sindactilia Cenani","Sindactilia Cenani-Lenz","Sindactilia tipo 7"],"definition":"A síndrome de Cenani-Lenz (CLS) é uma malformação congénita que associa uma sindactilia complexa das mãos com malformações dos ossos do antebraço e manifestações semelhantes nos membros inferiores."},"pl":{"name":"Zespół Cenani i Lenza","synonyms":["Syndaktylia Cenani","Syndaktylia Cenani i Lenza","Syndaktylia typu 7"]},"cs":{"name":"Cenaniho-Lenzův syndrom","synonyms":["Cenaniho syndaktylie","Cenaniho-Lenzova syndaktylie","Syndaktylie, typ 7","Cenani-Lenzův syndrom","Cenani-Lenzova syndaktylie"]},"uk":{"name":"Синдром Сенані-Ленца","synonyms":["Синдактилія Сенані","Синдактилія Сенані-Ленца","Синдактилія типу 7"],"definition":"Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs."},"zh":{"name":"Cenani-Lenz综合征","synonyms":["Cenani-Lenz型并指（趾）畸形"]},"tr":{"name":"Cenani-Lenz sendromu","synonyms":["Cenani sindaktili","Sindaktili tip 7","Cenani-Lenz sindaktili"]}},"xrefs":[{"source":"OMIM","code":"212780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"776925344"},{"source":"MONDO","code":"0008931","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859309","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"LRP4","name":"LDL receptor related protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20381006[PMID]_23636941[PMID]","hgnc":"6696","ensembl":"ENSG00000134569","omim":"604270","loci":["11p11.2"]},{"symbol":"APC","name":"APC regulator of Wnt signaling pathway","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25676610[PMID]","hgnc":"583","ensembl":"ENSG00000134982","omim":"611731","loci":["5q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-18","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","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:0001802","label":"Absent toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001849","label":"Foot oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null}]}}