{"orpha":1655,"name":"Müllerian derivatives-lymphangiectasia-polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Urioste syndrome"],"definition":"A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1655/","orphanet_url":"https://www.orpha.net/en/disease/detail/1655","names":{"fr":{"name":"Syndrome de dérivés müllériens-lymphangiectasies-polydactylie","synonyms":["Syndrome de Urioste"],"definition":"Maladie génétique rare caractérisée par la persistance de dérivés müllériens (corne utérine rudimentaire, trompes de Fallope et atrésie vaginale) et d'autres anomalies génitales (cryptorchidie, micropénis) chez les nouveau-nés de sexe masculin, une lymphangiectasie intestinale et pulmonaire, une entéropathie exsudative, une hépatomégalie et des anomalies rénales. Une polydactylie postaxiale, une dysmorphie faciale (pont nasal large, pointe nasale bulbeuse, lèvre supérieure longue et proéminente avec un philtrum lisse, crêtes alvéolaires hypertrophiques et légère rétrognathie) et des membres courts ont également été décrits. Le syndrome est fatal dans la petite enfance."},"de":{"name":"Müller-Gang-Derivate-Lymphangiektasie-Polydaktylie-Syndrom","definition":"Eine seltene genetische Erkrankung männlicher Neugeborener, die gekennzeichnet ist durch das Vorhandensein von Müller-Derivaten (rudimentärer Uterus, Eileiter und atretische Vagina) und anderen genitalen Anomalien (Kryptorchismus, Mikropenis), intestinaler und pulmonaler Lymphangiektasie, Enteropathie mit Proteinverlust, Hepatomegalie und Nierenanomalien. Postaxiale Polydaktylie, Gesichtsdysmorphien (einschließlich eines breiten Nasenrückens, einer knolligen Nasenspitze, einer langen, prominenten Oberlippe mit glattem Philtrum, hypertrophen Alveolarkämmen und einer leichten Retrognathie) und kurze Extremitäten wurden ebenfalls beschrieben. Das Syndrom verläuft im Kindesalter tödlich."},"es":{"name":"Síndrome de derivados mullerianos-linfangiectasia-polidactilia","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la persistencia de derivados del conducto de Müller (útero rudimentario, trompas de Falopio y vagina atrésica) y otras anomalías genitales (criptorquidia, micropene) en recién nacidos varones, linfangiectasia intestinal y pulmonar, enteropatía pierde-proteínas, hepatomegalia y anomalías renales. También se ha descrito polidactilia postaxial, dismorfia facial (incluyendo puente nasal ancho, punta nasal bulbosa, labio superior largo y prominente con filtrum liso, hipertrofia del reborde alveolar y leve retrognatia, entre otras características), así como acortamiento de las extremidades. El síndrome es fatal en la lactancia."},"it":{"name":"Sindrome derivati mülleriani-linfangectasia-polidattilia","definition":"Si tratta di una malattia genetica rara, caratterizzata dalla presenza di derivati dei dotti mülleriani (utero rudimentale, tube di Falloppio e atresia vaginale), associata ad altre anomalie genitali (criptorchidismo, micropene) nei neonati maschi, linfangectasia intestinale e polmonare, enteropatia con perdita di proteine, epatomegalia e anomalie renali. I pazienti possono presentare anche polidattilia postassiale, dismorfismi facciali (sella nasale larga, punta del naso globosa, labbro superiore lungo e prominente con filtro liscio, creste alveolari ipertrofiche e lieve retrognazia) e arti corti. La malattia è letale nella prima infanzia."},"nl":{"name":"Mülleriaanse derivaten - lymfangiëctasie - polydactylie-syndroom","synonyms":["Syndroom van Urioste"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door aanwezigheid van structuren afgeleid van gang van Müller (rudimentaire uterus, eileiders, en atretische vagina) en andere genitale anomalieen (cryptorchisme, micropenis) in mannelijke neonaten, intestinale en pulmonale lymfangiëctasie, enteropathie met eiwitverlies, hepatomegalie, en nieranomalieën. Postaxiale polydactylie, faciale dysmorfie (met onder meer brede neusbrug, bolle neuspunt, lange en prominente bovenlip met glad filtrum, hypertrofische alveolaire kam, en milde retrognathie), en korte ledematen werden ook reeds beschreven. Het syndroom is fataal in de zuigelingentijd."},"pt":{"name":"Síndrome de derivados müllerianos-linfangiectasia-polidactilia","synonyms":["Síndrome Urioste"]},"pl":{"name":"Pochodne przewodu Mullera - limfangiektazja - polidaktylia","synonyms":["Urioste syndrome"]},"cs":{"name":"Syndrom zahrnující deriváty Müllerova vývodu, lymfangiektázii a polydaktylii","synonyms":["Urioste syndrome"]},"uk":{"name":"Синдром похідних мюллерових проток-лімфангіектазії-полідактилії","synonyms":["Синдром урикозу"],"definition":"A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy."},"zh":{"name":"苗勒管发育异常-淋巴管扩张-多指畸形综合征","synonyms":["Urioste 综合征"]},"tr":{"name":"Müllerian türevleri-lenfanjiyektazi-polidaktili sendromu","synonyms":["Urioste sendromu"]}},"xrefs":[{"source":"OMIM","code":"235255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009333","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856159","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"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":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"8256813[PMID]_11746031[PMID]_11746030[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8256813[PMID]_11746031[PMID]_11746030[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-30","source":"8256813[PMID]_11746031[PMID]_11746030[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001090","label":"Abnormally large globe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009085","label":"Alveolar ridge overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006273","label":"Pancreatic lymphangiectasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006521","label":"Pulmonary lymphangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Frequent (79-30%)","criteria":null}]}}