{"orpha":2378,"name":"Laurin-Sandrow syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mirror hands and feets-nasal defects syndrome","Sandrow syndrome"],"definition":"Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2378/","orphanet_url":"https://www.orpha.net/en/disease/detail/2378","names":{"fr":{"name":"Syndrome de Laurin-Sandrow","synonyms":["Syndrome de Sandrow","Syndrome de mains et pieds en miroir-anomalie du nez"],"definition":"Le syndrome de Laurin-Sandrow (SLS) est caractérisé par une polysyndactylie complète des mains, des pieds en miroir et des anomalies du nez (hypoplasie des ailes nasales et columelle courte), souvent associés à une duplication du tibia et/ou du péroné (et parfois une agénésie tibiale). Il a été décrit dans moins de 20 cas. Certains patients présentant les mêmes signes cliniques mais sans les anomalies nasales ont également été décrits, et pourraient présenter la même entité. L'étiologie du SLS est inconnue. Plusieurs modes de transmission ont été évoqués."},"de":{"name":"Laurin-Sandrow-Syndrom","synonyms":["Füße und Hände, spiegelbildliche - Nasenanomalien","Sandrow-Syndrom"],"definition":"Das Laurin-Sandrow-Syndrom (LSS) ist gekennzeichnet durch vollständige Polysyndaktylie der Hände, durch Spiegelfüße und Nasenanomalien (hypoplastische Nasenflügel, kurze Columella), oft in Verbindung mit gedoppelter Ulna und/oder Fibula und manchmal mit Tibiaagenesie."},"es":{"name":"Síndrome de Laurin-Sandrow","definition":"El síndrome de Laurin-Sandrow (LSS) se caracteriza por polisindactilia completa de las manos, pies en espejo y anomalías de la nariz (hipoplasia de las alas nasales y columela corta), a menudo asociado a duplicación cubital y/o del peroné (y, a veces, agenesia tibial). Se ha descrito en menos de 20 casos. También se han descrito algunos casos con los mismos signos clínicos, pero sin defectos nasales, que podrían representar la misma entidad. La etiología del LSS es desconocida. Se han sugerido diversos modos de herencia."},"it":{"name":"Sindrome di Laurin-Sandrow","synonyms":["Mani e piedi a specchio - anomalie del naso"]},"nl":{"name":"Syndroom van Laurin-Sandrow","synonyms":["Spiegelhanden en -voeten - defecten van neus-syndroom","Syndroom van Sandrow"],"definition":"Een syndroom, gekenmerkt door complete polysyndactylie van handen, gespiegelde voeten, en anomalieën van neus (hypoplasie van neusvleugels en korte columella), vaak geassocieerd met duplicatie van ulna en/of fibula (en soms agenesie van tibia). Minder dan 20 gevallen werden beschreven. Er werden ook enkele gevallen met dezelfde klinische verschijnselen maar zonder nasale defecten gerapporteerd, die mogelijk dezelfde entiteit vertegenwoordigen. De etiologie van LSS is niet gekend. Er werden reeds verschillende manieren van overerving gesuggereerd."},"pt":{"name":"Síndrome Laurin-Sandrow","synonyms":["Síndrome de mãos e pés em espelho-anomalias do nariz"]},"pl":{"name":"Zespół Laurina i Sandrowa","synonyms":["Lustrzane odbicie dłoni i stóp - wady nosa","Zespół Sandrowa"]},"cs":{"name":"Laurinové-Sandrowův syndrom","synonyms":["Syndrom zahrnující zrcadlové ruce a nohy a defekty nosu","Sandrowův syndrom","Laurin-Sandrowův syndrom"]},"uk":{"name":"Синдром Лауріна-Сандроу","synonyms":["Синдром дзеркальних рук і ніг - дефектів носа","Синдром Сандроу"],"definition":"Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested."},"zh":{"name":"Laurin-Sandrow综合征","synonyms":["一腕双手-脚鼻缺陷综合征"]},"tr":{"name":"Laurin-Sandrow sendromu","synonyms":["Sandrow sendromu","Ayna el ve ayak-burun defektleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"135750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"671594481"},{"source":"MONDO","code":"0007615","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535689","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"155","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":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24456159[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"18792985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18792985[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010689","label":"Mirror image polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009556","label":"Absent tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010503","label":"Fibular duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100524","label":"Limb duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}