{"orpha":2973,"name":"46,XX difference of sex development-anorectal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XX disorder of sex development-anorectal anomalies syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2973/","orphanet_url":"https://www.orpha.net/en/disease/detail/2973","names":{"fr":{"name":"Syndrome de différence du développement sexuel 46,XX-anomalies anorectales","synonyms":["Syndrome d'anomalie du développement sexuel 46,XX-anomalies anorectales"],"definition":"Le syndrome d'anomalie du développement sexuel 46,XX-anomalies anorectales est un trouble rare du développement survenant au cours de l'embryogenèse. Il se caractérise par un caryotype féminin normal, des ovaires normaux, des organes génitaux masculins ou ambigus, des malformations des voies urinaires (allant d'une agénésie rénale bilatérale à une légère hydronéphrose unilatérale), des anomalies des canaux de Müller (par ex. absence complète de l'utérus et du vagin, utérus bicorne) et un anus imperforé. Les signes additionnels peuvent inclure une fistule trachéo-oesophagienne, une aplasie radiale et une malrotation intestinale."},"de":{"name":"46,XX Störung der Geschlechtsentwicklung-anorektale Anomalien-Syndrom","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch einen normalen weiblichen Karyotyp, normale Eierstöcke, männliche oder uneindeutige Genitalien, Fehlbildungen der Harnwege (von beidseitiger Nierenagenesie bis hin zu leichter einseitiger Hydronephrose), Anomalien der Müllerschen Gänge (z. B. vollständiges Fehlen des Uterus und der Vagina, Uterus bicornis) und einen fehlgebildeten Anus gekennzeichnet ist. Weitere Merkmale können eine tracheo-ösophageale Fistel, eine radiale Aplasie und eine Malrotation des Darms sein."},"es":{"name":"Síndrome de desarrollo sexual diferente 46,XX-anomalías anorrectales","synonyms":["Síndrome DSD 46,XX-anomalías anorrectales","Síndrome de trastorno del desarrollo sexual 46,XX-anomalías anorrectales"],"definition":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por un cariotipo femenino normal, ovarios normales, genitales masculinos o ambiguos, malformaciones del tracto urinario (que van desde agenesia renal bilateral a hidronefrosis unilateral leve), anomalías del conducto Mülleriano (p.ej. ausencia completa del útero y de la vagina, útero bicorne) y ano imperforado. Otras características adicionales pueden incluir la fístula traqueoesofágica, la aplasia radial y la malrotación intestinal."},"it":{"name":"Disturbi dello sviluppo sessuale 46,XX - anomalie anorettali","synonyms":["Pseudoermafroditismo femminile - anomalie anorettali"],"definition":"Il disturbo dello sviluppo sessuale 46,XX-anomalie anorettali è un difetto raro dello sviluppo dell'embrione, associato ad un cariotipo femminile, con ovaie normali, genitali maschili o ambigui, malformazioni delle vie urinarie (variabili tra l'agenesia renale bilaterale e l'idronefrosi monolaterale lieve), anomalie del dotto mülleriano (assenza totale dell'utero e della vagina, utero bicorne) e ano imperforato. Altri segni clinici sono la fistola tracho-esofagea, l'aplasia del radio e la malrotazione dell'intestino."},"nl":{"name":"46,XX-geslachtsontwikkelingsstoornis - anorectale anomalieën-syndroom","definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door een normaal vrouwelijk karyotype, normale ovaria, mannelijke of ambigue geslachtsorganen, malformaties van urinewegstelsel (gaande van bilaterale nieragenesie tot milde unilaterale hydronefrose), anomalieën van gang van Müller (zoals volledige afwezigheid van uterus en vagina, uterus bicornis), en anusatresie. Mogelijke bijkomende kenmerken zijn onder meer tracheo-oesofageale fistels, aplasie van radius, en malrotatie van darm."},"pt":{"name":"Síndrome de diferença do desenvolvimento sexual 46,XX-anomalias ano-rectais","definition":"Defeito do desenvolvimento raro durante a embriogénese caracterizado por um cariótipo feminino normal, ovários normais, genitais masculinos ou ambíguos, malformações do trato urinário (que variam de agenesia renal bilateral a hidronefrose unilateral ligeira), anomalias do ducto mülleriano (por exemplo, ausência completa do útero e da vagina, útero bicorno) e ânus imperfurado. As características adicionais podem incluir fístula traqueoesofágica, aplasia radial e má rotação do intestino."},"pl":{"name":"Zaburzenie rozwoju płci z kariotypem 46,XX - anomalie odbytu i odbytnicy","synonyms":["Pseudohermafrodytyzm żeński - wady odbytnicy i odbytu"],"definition":"Rzadka wada rozwojowa w okresie embriogenezy charakteryzująca się prawidłowym kariotypem żeńskim, prawidłowymi jajnikami, męskimi lub obojnaczymi narządami płciowymi, wadami układu moczowego (od obustronnej agenezji nerek do łagodnego jednostronnego wodonercza), wadami przewodów Müllera (np. całkowity brak macicy i pochwy, dwurożność macica) i niedrożnością odbytu. Dodatkowe objawy mogą obejmować przetokę tchawiczo-przełykową, aplazję kości promieniowej oraz nieprawidłowy zwrot jelit."},"cs":{"name":"Syndrom zahrnující 46,XX poruchu pohlavního vývoje a anorektální anomálie","synonyms":["Syndrom zahrnující ženský pseudohermafroditismus a anorektální anomálie"]},"uk":{"name":"Синдром 46,XX порушення статевої диференціації- аноректальних аномалій","synonyms":["Синдром 46,XX порушення статевого розвитку - аноректальних аномалій"],"definition":"A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut."},"zh":{"name":"46XX性发育异常-肛门直肠异常综合征"},"tr":{"name":"46, XX cinsel gelişim bozukluğu-anorektal anomaliler sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q56.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1089127159"},{"source":"MONDO","code":"0017573","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000812","label":"Abnormal internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Occasional (29-5%)","criteria":null}]}}