{"orpha":2842,"name":"Penoscrotal transposition","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2842/","orphanet_url":"https://www.orpha.net/en/disease/detail/2842","names":{"fr":{"name":"Transposition pénoscrotale","definition":"Anomalie génitale congénitale rare dans laquelle le scrotum est positionné au-dessus et en avant du pénis. La transposition pénoscrotale peut présenter un large spectre d'anomalies allant d'un simple scrotum en châle (scrotum en forme d'anneau) à une transposition extrême très complexe, associée à des malformations craniofaciales, du système nerveux central, cardiaques, gastro-intestinales, de l'appareil urinaire et d'autres malformations génitales (cryptorchidie, hypospadias, chordée). Des troubles de la croissance et une déficience intellectuelle peuvent également être observés (dans 60 % des cas)."},"de":{"name":"Penoskrotale Transposition","definition":"Die penoskrotale Transposition (PST) ist eine seltene angeborene Genitalanomalie, bei der das Skrotum über und vor dem Penis positioniert ist. Die PST kann mit einem breiten Spektrum von Anomalien aufwarten, die von einfachem 'Shawl-Skrotum' (Doughnut-Scrotum) bis hin zu sehr komplexen extremen Transpositionen mit kraniofazialen, zentralnervösen, kardialen, gastrointestinalen, urologischen und anderen genitalen (nicht absteigende Hoden, Hypospadien, Chordee) Fehlbildungen reichen. Wachstumsmangel und Intelligenzminderung sind ebenfalls zu beobachten (60% der Fälle)."},"es":{"name":"Transposición penoescrotal","definition":"Es una anomalía genital congénita poco frecuente en la que el escroto se sitúa en posición superior y anterior al pene. La PST puede presentar un amplio espectro de anomalías que van desde un simple escroto en chal hasta una transposición extrema muy compleja con malformaciones craneofaciales, del sistema nervioso central, cardíacas, gastrointestinales, urológicas y de otros órganos genitales (testículos no descendidos, hipospadias, encordamiento). También pueden observarse deficiencias de crecimiento y discapacidad intelectual (60% de los casos)."},"it":{"name":"Trasposizione penoscrotale","definition":"La trasposizione penoscrotale (PST) è un'anomalia congenita rara dei genitali, nella quale lo scroto colloca in una posizione superiore e anteriore rispetto al pene. La PST può associarsi a numerose anomalie, dal semplice scroto a scialle (scroto a ciambella), alla trasposizione estrema complessa, con malformazioni craniofacciali, cardiache, gastrointestinali, urologiche, del sistema nervoso centrale e altre malformazioni genitali (criptorchidismo, ipospadia, incurvamento del pene). Possono associarsi ritardo della crescita e disabilità cognitiva (60% dei casi)."},"nl":{"name":"Penoscrotale transpositie","definition":"Een zeldzame congenitale anomalie van genitaliën waarbij het scrotum superieur en anterieur van de penis is gepositioneerd. PST kan zich presenteren met een breed spectrum van anomalieën, gaande van eenvoudig sjaalscrotum tot zeer complexe extreme transpositie met craniofaciale, cardiale, gastro-intestinale, urologische, en andere genitale (niet-ingedaalde testes, hypospadie, afwijkende kromming van penis) malformaties, alsook malformaties van centraal zenuwstelsel. Groeideficiëntie en intellectuele achterstand worden mogelijk ook opgemerkt (60% van de gevallen)."},"pt":{"name":"Transposição peno-escrotal"},"pl":{"name":"Transpozycja prąciowo-mosznowa"},"cs":{"name":"Penoskrotální transpozice"},"uk":{"name":"Піноскротальна транспозиція","definition":"A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)."},"zh":{"name":"阴茎阴囊转位"},"tr":{"name":"Penoskrotal transpozisyon"}},"xrefs":[{"source":"ICD-10","code":"Q55.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1417779551"},{"source":"MONDO","code":"0017285","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536650","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868854","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4273","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067287","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182121,"name":"Non-syndromic urogenital tract malformation of male","classifications":[147,185,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100600","label":"Penoscrotal transposition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Occasional (29-5%)","criteria":null}]}}