{"orpha":1296,"name":"Lambert syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Branchial dysplasia-intellectual disability-inguinal hernia syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1296/","orphanet_url":"https://www.orpha.net/en/disease/detail/1296","names":{"fr":{"name":"Syndrome de Lambert","synonyms":["Syndrome de dysplasie branchiale-déficience intellectuelle-hernie"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une dysplasie des arcs branchiaux (hypoplasie malaire, macrostomie, sinus préauriculaires et atrésie du méat), le pied bot, des hernies inguinales, une cholestase due à la raréfaction des canaux biliaires interlobulaires et une déficience intellectuelle. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Lambert-Syndrom","synonyms":["Bronchiale Dysplasie - Intelligenzminderung - Inguinalhernie"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Branchialdysplasie (Malarhypoplasie, Makrostomie, präaurikuläre Anhängsel und Atresie des Meatus), Klumpfüße, Inguinalhernien und Cholestase aufgrund eines Mangels an interlobulären Gallengängen sowie Intelligenzminderung gekennzeichnet ist. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Lambert","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por displasia branquial (hipoplasia malar, macrostomía, etiquetas preauriculares y atresia del meato), pie zambo, hernias inguinales y colestasis debido a la escasez de conductos biliares interlobulillares, y discapacidad intelectual. No ha habido más descripciones en la literatura desde 1990."},"it":{"name":"Displasia branchiale - ritardo mentale - ernia","synonyms":["Sindrome di Lambert"],"definition":"La sindrome di Lambert è una sindrome molto rara, descritta in quattro fratelli di una famiglia francese; è caratterizzata da displasia branchiale (ipoplasia malare, macrostomia, appendici preauricolari e atresia del meato), deformità dei piedi, ernie inguinali e colestasi da paucità dei dotti biliari interlobulari e deficit cognitivo."},"nl":{"name":"Syndroom van Lambert","synonyms":["Branchiale dysplasie - intellectuele achterstand - hernia inguinalis-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door branchiale dysplasie (hypoplasie van jukbeen, macrostomie, pre-auriculaire aanhangsels en atresie van meatus), klompvoeten, hernia inguinalis en cholestase door schaarste van interlobulaire galwegen, en intellectuele achterstand. Sinds 1990 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Lambert","synonyms":["Displasia branquial-perturbação do desenvolvimento intelectual-hérnia inguinal"],"definition":"Síndrome dismórfica/anomalia congénita múltipla rara caracterizada por displasia branquial (hipoplasia malar, macrostomia, apêndices pré-auriculares e atresia do meato), pé boto, hérnias inguinais e colestase devido à escassez de ductos biliares interlobulares e perturbação do desenvolvimento intelectual. Não existem descrições adicionais na literatura desde 1990."},"pl":{"name":"Zespół Lamberta","synonyms":["Dysplazja skrzelowa - niepełnosprawność intelektualna - przepuklina pachwinowa"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny, który charakteryzuje się dysplazją skrzelową (hipoplazja jarzmowa, makrostomia, wyrośla przeduszne i atrezja ujścia słuchowego), stopami końsko-szpotawymi, przepuklinami pachwinowymi, cholestazą z powodu niedoboru międzyzrazikowych dróg żółciowych oraz deficytem intelektualnym. Od 1990 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Lambertův syndrom","synonyms":["Syndrom zahrnující dysplázii žaberních oblouků, mentální retardaci a inguinální hernii"]},"uk":{"name":"Синдром Ламберта","synonyms":["Синдром дисплазії гілок - інтелектуальної недостатності - пахової грижі"],"definition":"A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit."},"zh":{"name":"Lambert综合征","synonyms":["鳃发育不良-智力障碍-腹股沟疝综合征"]},"tr":{"name":"Lambert sendromu","synonyms":["Branşiyal displazi-zihinsel yetersizlik-kasık fıtığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"245550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009507","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855551","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156202,"name":"Otomandibular dysplasia associated with monogenic syndromes","classifications":[147,156,199,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2352262[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2352262[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005248","label":"Intrahepatic biliary atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009794","label":"Branchial anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null}]}}