{"orpha":495879,"name":"Congenital agenesis of the scrotum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital absence of the scrotum","Congenital scrotal absence","Congenital scrotal agenesis"],"definition":"A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495879/","orphanet_url":"https://www.orpha.net/en/disease/detail/495879","names":{"fr":{"name":"Agénésie congénitale du scrotum","synonyms":["Absence congénitale du scrotum","Agénésie scrotale congénitale"],"definition":"Malformation urogénitale rare caractérisée par l'absence complète de replis scrotaux au niveau du périnée, entre le pénis et l'anus, et par une cryptorchidie ou une ectopie des deux testicules. L'agénésie de l'hémiscrotum fait référence à l'absence unilatérale de peau sur le scrotum, avec un raphé périnéal intact et une cryptorchidie ipsilatérale. Ces deux types de malformations peuvent survenir de manière isolée ou en association avec d'autres anomalies."},"de":{"name":"Skrotum, kongenitale Agenesie des","synonyms":["Hodensack, fehlender","Skrotale Agenesie, kongenitale","Skrotum, kongenitales Fehlen des"],"definition":"Eine seltene Fehlbildung des Urogenitaltrakts, die durch das vollständige Fehlen der Rugae scrotalis im Dammbereich zwischen Penis und Anus gekennzeichnet ist, wobei die Hoden beidseitig in einer kryptorchiden oder ektopen Position vorhanden sind. Die hemiskrotale Agenesie bezeichnet das einseitige Fehlen der Skrotalhaut bei intakter Mittellinienraphe und ipsilateralem Kryptorchismus. Beide Fehlbildungen können isolierte Befunde sein oder in Verbindung mit anderen Anomalien auftreten."},"es":{"name":"Agenesia congénita del escroto","synonyms":["Agenesia escrotal congénita","Ausencia congénita del escroto","Ausencia escrotal congénita"],"definition":"Es una malformación poco frecuente del tracto urogenital caracterizada por la ausencia completa de los pliegues escrotales en el perineo entre el pene y el ano, con ambos testículos en posición criptórquida o ectópica. La agenesia hemiescrotal hace referencia a la ausencia unilateral de piel escrotal con rafe de línea media intacto y criptorquidia ipsilateral. Ambas malformaciones pueden ser hallazgos aislados o presentarse asociadas a otras anomalías."},"it":{"name":"Agenesia congenita dello scroto","definition":"Si tratta di una malformazione rara del tratto urogenitale, caratterizzata dall'agenesia completa delle rughe scrotali nel perineo tra il pene e l'ano, con testicoli bilaterali presenti in criptorchidismo o in posizione ectopica. Si definisce agenesia emiscrotale l'agenesia monolaterale della cute dello scroto, con rafe mediano intatto e criptorchidismo del lato interessato. Entrambe le malformazioni possono essere isolate o associarsi ad altre anomalie."},"nl":{"name":"Congenitale agenesie van scrotum","synonyms":["Congenitale afwezigheid van scrotum","Congenitale agenesie van balzak","Congenitale scrotale afwezigheid","Congenitale scrotale agenesie"],"definition":"Een zeldzame malformatie van urogenitaal stelsel, gekarakteriseerd door volledige afwezigheid van scrotale rugae in het perineum tussen penis en anus, en bilaterale testikels die aanwezig zijn in een niet-ingedaalde of ectopische positie. Agenesie van hemiscrotum verwijst naar de unilaterale afwezigheid van huid van scrotum met intacte mediane raphe en ipsilateraal cryptorchisme. Beide malformaties kunnen geïsoleerd voorkomen, of geassocieerd zijn met andere anomalieën."},"pt":{"name":"Agenesia congénita do escroto"},"pl":{"name":"Agenezja wrodzona moszny","synonyms":["Wrodzony brak moszny"]},"cs":{"name":"Vrozená ageneze skrota","synonyms":["Congenital scrotal absence","Congenital scrotal agenesis","Congenital absence of the scrotum","Vrozená absence šourku","Vrozená skrotální ageneze","Vrozená absence skrota"]},"uk":{"name":"Вроджена агенезія мошонки","synonyms":["Вроджена відсутність мошонки","Вроджена відсутність мошонки","Вроджена аномалія розвитку мошонки"],"definition":"A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies."},"zh":{"name":"先天性阴囊发育不全","synonyms":["Congenital scrotal agenesis"]},"tr":{"name":"Skrotumun doğumsal agenezisi","synonyms":["Doğumsal skrotal yokluğu","Doğumsal skrotal agenezi","Skrotumun doğumsal yokluğu"]}},"xrefs":[{"source":"ICD-10","code":"Q55.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"MONDO","code":"0044644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1387020","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":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23374822[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23374822[PMID]"}],"phenotypes":null}