{"orpha":2487,"name":"Lower limb malformation-hypospadias syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Fried-Goldberg-Mundel syndrome"],"definition":"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2487/","orphanet_url":"https://www.orpha.net/en/disease/detail/2487","names":{"fr":{"name":"Syndrome d'anomalie du membre inférieur-hypospadias","synonyms":["Syndrome de Fried-Golberg-Mundel"],"definition":"Un trouble rare du développement survenant pendant l'embryogenèse. Il se caractérise par des malformations sévères unilatérales ou bilatérales des membres inférieurs (incluant une hypoplasie du tibia, des pieds bots en piolet et fendus, et une oligosyndactylie), des membres supérieurs normaux et un hypospadias. Une dysmorphie faciale additionnelle (cou court, larges oreilles implantées basses), une communication interatriale, une sténose de la jonction pyélo-urétérale et une légère septation splénique ont aussi été rapportées. Il n'y a pas eu de description ultérieure dans la littérature depuis 1977."},"de":{"name":"Anomalien der unteren Extremitäten-Hypospadie-Syndrom","synonyms":["Fried-Golberg-Mundel-Syndrom"]},"es":{"name":"Síndrome de malformación de las extremidades inferiores-hipospadias","synonyms":["Síndrome de Fried-Goldberg-Mundel"],"definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por malformaciones graves, uni- o bilaterales, en las extremidades inferiores (que incluyen hipoplasia tibial, pies separados ''en mecedora'' y oligosindactilia) sin afectación de las extremidades superiores e hipospadias. Se han descrito: características dismórficas adicionales (p. ej., cuello corto y orejas grandes de baja implantación), comunicación interauricular, estenosis de la unión ureteropélvica y ligera compartimentación en el bazo. No se han descrito nuevos casos en la literatura desde 1977."},"it":{"name":"Sindrome da malformazioni degli arti inferiori e ipospadia","synonyms":["Sindrome di Fried-Golberg-Mundel"],"definition":"La sindrome che associa malformazioni degli arti inferiori e ipospadia è un difetto raro dello sviluppo dell'embrione, caratterizzato da malformazioni gravi mono- o bilaterali degli arti inferiori (ipoplasia della tibia, piedi a chela e ''a piccozza'', oligosindattilia) e ipospadia. Gli arti superiori sono normali. Possono associarsi altri dismorfismi (collo corto e orecchie grandi e a basso impianto), difetti del setto interatriale, stenosi della giunzione uretero-pelvica e lieve settazione della milza. Non sono stati descritti nuovi casi dopo il 1977."},"nl":{"name":"Malformatie van onderste ledematen - hypospadie-syndroom","synonyms":["Syndroom van Fried-Goldberg-Mundel"],"definition":"Malformatie van de onderste ledematen - hypospadieën-syndroom is een zeldzaam ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door ernstige, uni- of bilaterale malformaties van de onderste ledematen (waaronder tibiale hypoplasie, gespleten en convexe voeten, en oligosyndactylie), normale bovenste ledematen en hypospadieën. Bijkomende dysmorfe kenmerken (e.g. korte nek/hals en laagstaande, grote oren), atriumseptumdefect, stenose van de ureteropelviene junctie, en lichte septatie van de milt, werden ook reeds gerapporteerd. Sinds 1977 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de malformação dos membros inferiores-hipospadias","synonyms":["Síndrome Fried-Goldberg-Mundel"]},"pl":{"name":"Zniekształcenie kończyny dolnej - spodziectwo","synonyms":["Zespół Frieda, Goldberga i Mundela"],"definition":"*Zniekształcenie kończyny dolnej – spodziectwo jest rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się ciężkimi, jedno- lub obustronnymi wadami kończyn dolnych (niedorozwój kości piszczelowej, stopy szpotawe z rozszczepem oraz oligosyndaktylia), prawidłowymi kończynami górnymi i spodziectwem. Opisywano także cechy dysmorfii (krótka szyja i nisko osadzone, duże uszy), wady przegrody międzyprzedsionkowej, zwężenia połączenia moczowodowo-miedniczkowego i niewielkie przegrody śledziony. Od 1977 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující chybění dolní končetiny a hypospadii","synonyms":["Friedův-Goldbergův-Mundelův syndrom","Fried-Goldberg-Mundelův syndrom"]},"uk":{"name":"Синдром вади розвитку нижніх кінцівок - гіпоспадії","synonyms":["Синдром Фріда-Гольдберга-Мунделя"],"definition":"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977."},"zh":{"name":"下肢畸形-尿道下裂综合征","synonyms":["Fried-Goldberg-Mundel 综合征"]},"tr":{"name":"Alt ekstremite malformasyonu-hipospadias sendromu","synonyms":["Fried-Goldberg-Mundel sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016639","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535640","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930962","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"592351[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_592351[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null}]}}