{"orpha":95706,"name":"Non-syndromic posterior hypospadias","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Hypospadias, severe form","Perineal, scrotal or penoscrotal hypospadias"],"definition":"A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95706/","orphanet_url":"https://www.orpha.net/en/disease/detail/95706","names":{"fr":{"name":"Hypospadias postérieur non syndromique","synonyms":["Hypospadias périnéal, scrotal ou pénoscrotal","Hypospadias, forme sévère"],"definition":"Malformation urogénitale rare, non syndromique et congénitale de l'homme, caractérisée par un déplacement pénoscrotal, scrotal ou périnéal du méat urétral, généralement associée à une courbure du pénis. Dans les cas les plus graves, le scrotum peut apparaître bifide et le garçon peut également avoir un micropénis."},"de":{"name":"Hypospadie, posteriore, nicht-syndromale","synonyms":["Hypospadie, schwere Form","Perineale, skrotale oder penoskrotale Hypospadie"],"definition":"Eine seltene, nicht syndromale, angeborene Fehlbildung des Urogenitaltrakts bei männlichen Patienten, die durch eine penoskrotale, skrotale oder perineale Verlagerung des Harnröhrenganges gekennzeichnet ist und häufig mit einer Peniskrümmung einhergeht. In schweren Fällen kann der Hodensack bifid erscheinen, ein assoziierter Mikropenis ist möglich."},"es":{"name":"Hipospadias posteriores","synonyms":["Hipospadias perineal, escrotal o penoescrotal","Hipospadias, forma grave"],"definition":"Es una malformación del tracto urogenital, no sindrómica y poco frecuente, caracterizada por un desplazamiento perineal, escrotal o penoescrotal del meato uretral habitualmente asociado a incurvación peneana. En casos graves, el escroto puede tener una apariencia de escroto bífido y puede ir acompañado de micropene."},"it":{"name":"Ipospadia posteriore","synonyms":["Ipospadia perineale, scrotale o penoscrotale"],"definition":"L'ipospadia posteriore è una malformazione congenita rara non sindromica dell'apparato urogenitale, caratterizzata dalla dislocazione del meato uretrale in posizione peno-scrotale, scrotale o perineale, spesso associata all'incurvamento del pene. Nei casi più gravi, i pazienti presentano uno scroto bifido. Può associarsi a micropene."},"nl":{"name":"Posterieure hypospadie","synonyms":["Hypospadie, ernstige vorm","Perineale, scrotale of penoscrotale hypospadie"],"definition":"Een zeldzame, niet-syndromale congenitale malformatie van urogenitaal stelsel die mannen treft, gekarakteriseerd door penoscrotale, scrotale of perineale dislocatie van urethrale meatus, en doorgaans geassocieerd met gebogen penis. Scrotum kan in ernstige gevallen bifide lijken, en micropenis kan aanwezig zijn."},"pt":{"name":"Hipospadias, formas graves"},"pl":{"name":"Spodziectwo tylne","synonyms":["Spodziectwo kroczowe, mosznowe lub prąciowo-mosznowe"]},"cs":{"name":"Zadní hypospadie","synonyms":["Perineální, skrotální nebo penoskrotální hypospadie"]},"uk":{"name":"Несиндромні задні гіпоспадії","synonyms":["Гіпоспадія, важка форма","Гіпоспадія промежини, мошонки або піноскротальна гіпоспадія"],"definition":"A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis."},"zh":{"name":"后尿道下裂","synonyms":["会阴、阴囊或阴茎阴囊尿道下裂"],"definition":"后尿道下裂是一种罕见的、非综合征性的泌尿生殖道畸形，其特征是位于阴茎后部、阴囊或会阴的异位尿道口，常出现狭窄。在严重的情况下可能会出现阴囊对裂，而小阴茎并不常见。可观察到尿路畸形，如肾盂输尿管连接部梗阻、膀胱输尿管反流、盆腔肾或马蹄肾、交叉性肾异位、肾发育不全。"},"tr":{"name":"Posterior hipospadias","synonyms":["Perineal, skrotal veya penoskrotal hipospadias"]}},"xrefs":[{"source":"OMIM","code":"146450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300633","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300758","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q54.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q54.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB53.2","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"912726286"},{"source":"ICD-11","code":"LB53.3","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"435644926"},{"source":"ICD-11","code":"LB53.4","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1395446936"},{"source":"MONDO","code":"0019848","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":440,"name":"OBSOLETE: Familial hypospadias","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156622,"name":"Genetic urogenital tract malformation","classifications":[156]},{"orpha":182121,"name":"Non-syndromic urogenital tract malformation of male","classifications":[147,185,233]}],"children":[],"genes":[{"symbol":"AR","name":"androgen receptor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24722170[PMID]","hgnc":"644","ensembl":"ENSG00000169083","omim":"313700","loci":["Xq12"]},{"symbol":"MAMLD1","name":"mastermind like domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17086185[PMID]","hgnc":"2568","ensembl":"ENSG00000013619","omim":"300120","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.25,"area":"Europe","status":"Validated","source":"25712311[PMID]_26810252[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-03","source":"8097257[PMID]_28081624[PMID]_29165774[PMID]_30251425[PMID]_20920735[PMID]","terms":[{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012435","label":"Ventral shortening of foreskin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008226","label":"Androgen insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008722","label":"Urethral diverticulum","frequency":"Very rare (<4-1%)","criteria":null}]}}