{"orpha":2390,"name":"Lichtenstein syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2390/","orphanet_url":"https://www.orpha.net/en/disease/detail/2390","names":{"fr":{"name":"Syndrome de Lichtenstein","definition":"Maladie génétique rare caractérisée par des infections fréquentes associées à une neutropénie et à un déficit en IgA, en association avec une ostéoporose et des anomalies squelettiques telles que des anomalies de fusion vertébrale postérieure, une subluxation des os métacarpiens, une syndactylie et une camptodactylie. Les traits dysmorphiques rapportés se traduisent par une synophridie, des narines antéversées et un pli palmaire unique. Aucun cas n'a été décrit dans la littérature depuis 1972."},"de":{"name":"Lichtenstein-Syndrom","definition":"Ein seltenes Syndrom, das durch häufige Infektionen in Verbindung mit Neutropenie und IgA-Mangel in Kombination mit Osteoporose und Skelettanomalien, wie z. B. Fusionsdefekt des hinteren Wirbelbogens, Subluxation der Mittelhandknochen, Syndaktylie und Kamptodaktylie, gekennzeichnet ist. Zu den berichteten dysmorphen Merkmalen gehören Synophrys, antevertierte Nasenlöcher und eine einzelne Handfalte. Seit 1972 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Lichtenstein","definition":"Es una enfermedad genética poco frecuente caracterizada por infecciones frecuentes asociadas a neutropenia y deficiencia de IgA, en combinación con osteoporosis y anomalías esqueléticas, como defecto de fusión del arco vertebral posterior, subluxación metacarpiana, sindactilia y camptodactilia. Entre los rasgos dismórficos descritos se encuentran la sinofridia, la anteversión de las fosas nasales y el pliegue palmar único. No ha habido más descripciones en la literatura desde 1972."},"it":{"name":"Sindrome di Lichtenstein","definition":"Si tratta di una malattia genetica rara, caratterizzata da infezioni frequenti con neutropenia e deficit di IgA, associate ad osteoporosi e anomalie scheletriche (ad es. difetto della fusione dell'arco spinale posteriore, sublussazione dei metacarpi, sindattilia e camptodattilia). I dismorfismi comprendono la sinofria, le narici anteverse e la piega palmare unica. Non sono stati descritti nuovi casi dopo il 1972."},"nl":{"name":"Syndroom van Lichstenstein","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door frequente infecties geassocieerd met neutropenie en IgA-deficiëntie, in combinatie met osteoporose en skeletanomalieën, zoals fusiedefect van dorsale wervelboog, subluxatie van metacarpalen, syndactylie, en camptodactylie. Gerapporteerde dysmorfe kenmerken zijn onder meer synophrys, anteversie van de neusgaten, en doorlopende dwarse handlijn op de handpalm. Sinds 1972 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Lichstenstein"},"pl":{"name":"Zespół Lichstensteina"},"cs":{"name":"Lichtensteinův syndrom"},"uk":{"name":"Синдром Ліхтенштейна","definition":"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972."},"zh":{"name":"Lichtenstein综合征"},"tr":{"name":"Lichtenstein sendromu"}},"xrefs":[{"source":"OMIM","code":"246550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D70","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009523","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535894","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855502","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3248","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}