{"orpha":3409,"name":"Urban-Rogers-Meyer syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-short stature-hand contractures-genital anomalies syndrome","Prader-Willi habitus-osteopenia-camptodactyly syndrome"],"definition":"A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3409/","orphanet_url":"https://www.orpha.net/en/disease/detail/3409","names":{"fr":{"name":"Syndrome d'Urban-Rogers-Meyer","synonyms":["Syndrome d'habitus Prader-Willi-ostéopénie-camptodactylie","Syndrome de déficience intellectuelle-petite taille-mains contracturées-anomalies génitales"],"definition":"Syndrome caractérisé par un déficit intellectuel, une petite taille, une obésité, des anomalies génitales et des contractures des mains et/ou des orteils. Il a été décrit chez deux frères et un cas isolé. Les patients présentent également une ostéoporose généralisée, et une propension aux fractures. Ce syndrome est proche du syndrome de Prader-Willi, mais les contractures des mains, l'ostéoporose et l'absence d'hypotonie en font une entité différente."},"de":{"name":"Urban-Rogers-Meyer-Syndrom","synonyms":["Prader-Willi-Habitus mit Osteopenie und Kamptodaktylie","Syndromale Intelligenzminderung mit Kleinwuchs, Handkontrakturen und Genitalanomalien"]},"es":{"name":"Síndrome de Urban-Rogers-Meyer","synonyms":["Síndrome de discapacidad intelectual-talla baja-contracturas en las manos-anomalías genitales","Síndrome de hábito de Prader-Willi-osteopenia-camptodactilia"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por déficit intelectual, talla baja, obesidad, anomalías genitales y contracturas en las manos y/o los dedos de los pies. Los pacientes también presentan osteoporosis generalizada y antecedentes de fracturas frecuentes. Este síndrome es similar al síndrome de Prader-Willi, pero las contracturas de la mano y la osteoporosis, junto con la falta de hipotonía, indican que se trata de una entidad diferente."},"it":{"name":"Sindrome di Urban-Rogers-Meyer","synonyms":["Sindorme habitus Prader-Willi-osteopenia-camptodattilia","Sindrome disabilità intellettiva-bassa statura-contratture delle mani-anomalie genitali"]},"nl":{"name":"Syndroom van Urban-Rogers-Meyer","synonyms":["Intellectuele achterstand - kleine gestalte - handcontracturen - genitale anomalieën-syndroom","Prader-Willi-habitus - osteopenie - camptodactylie-syndroom"],"definition":"Een syndroom, gekenmerkt door intellectuele achterstand, kleine gestalte, obesitas, genitale afwijkingen, en contracturen van hand en/of teen. Het werd beschreven bij twee broers en één geïsoleerd geval. De patiënten vertonen ook gegeneraliseerde osteoporose en een voorgeschiedenis van frequente fracturen. Dit syndroom is gelijkaardig aan syndroom van Prader-Willi, maar contracturen van hand en osteoporose, samen met afwezigheid van hypotonie, geven aan dat dit een verschillende entiteit is."},"pt":{"name":"Síndrome Urban-Rogers-Meyer","synonyms":["Síndrome de habitus Prader-Willi-osteopenia-campodactilia","Síndrome de perturbação do desenvolvimento intelectual-baixa estatura-contraturas da mão-anomalias genitais"]},"pl":{"name":"Zespół Urbana, Rogersa i Meyera","synonyms":["Fenotyp przypominający zespół Pradera i Williego - osteopenia - kamptodaktylia","Niepełnosprawność intelektualna - niski wzrost - przykurcze rąk - anomalie narządów płciowych"]},"cs":{"name":"Urbanův-Rogersův-Meyerův syndrom","synonyms":["Syndrom zahrnující mentální retardaci, malý vzrůst, kontraktury ruky a anomálie genitálu","Syndrom zahrnující Praderův-Williho habitus, osteopenii a kamptodaktylii","Urban-Rogers-Meyerův syndrom","Syndrom zahrnující Prader-Williho habitus, osteopenii a kamptodaktylii"]},"uk":{"name":"Синдром Урбана-Роджерса-Мейєра","synonyms":["Синдром інтелектуальної недостатності - низькорослості - контрактури рук - генітальних аномалій","Синдром габітусу-остеопенії-камптодактилії Прадера-Віллі"],"definition":"A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity."},"zh":{"name":"Urban-Rogers-Meyer综合征","synonyms":["智力障碍-矮小-手挛缩-生殖器畸形综合征"]},"tr":{"name":"Urban-Rogers-Meyer sendromu","synonyms":["Prader-Willi habitus-osteopeni-kamptodaktili sendromu","Zihinsel yetersizlik-kısa boy-el kontraktürleri-genital anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"264010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796189","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5426","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"758422[PMID]_3239569[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_758422[PMID]_3239569[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}