{"orpha":171220,"name":"Isolated rectal duplication","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171220/","orphanet_url":"https://www.orpha.net/en/disease/detail/171220","names":{"fr":{"name":"Duplication rectale isolée","definition":"La duplication rectale est une malformation anorectale congénitale rare caractérisée par une masse kystique ovoïde remplie de mucus, composée de tissu musculaire lisse et de paroi muqueuse intestinale. Elle se manifeste généralement pendant l'enfance par des signes d'infection urinaire récurrente, une gastroentérite, une obstruction, un sepsis péri-anal et un saignement rectal. Un autre signe de présentation typique est le drainage de mucus ou de pus par l'anus. La majorité des cas se retrouvent dans l'espace rétro-rectal où ils communiquent avec le rectum, ou lui sont contigus."},"de":{"name":"Rektumduplikation, isolierte","definition":"Eine seltene angeborene morphologische Fehlbildung des Darms, die durch eine eiförmige, zystische, schleimgefüllte Masse gekennzeichnet ist, die aus Darmschleimhaut und glattem Muskelgewebe besteht. Häufig zeigt sie sich im Kindesalter mit Symptomen von rezidivierenden Harnwegsinfektionen, Gastroenteritis, Obstruktion, perianaler Sepsis und rektalen Blutungen. Schleim- oder Eiterausfluss aus dem Anus ist ebenfalls ein typisches Anzeichen. Die meisten finden sich im retro-rektalen Raum, wo sie mit dem Rektum kommunizieren oder an dieses angrenzen."},"es":{"name":"Duplicación rectal aislada","definition":"Es una malformación anorrectal congénita poco frecuente caracterizada por una masa quística de contenido mucoso en forma de huevo, compuesta de revestimiento mucoso intestinal y tejido muscular liso. Se presenta más comúnmente en la infancia con síntomas de infecciones recurrentes del tracto urinario, gastroenteritis, obstrucción, sepsis perianal y sangrado rectal. Asimismo, el drenaje anal mucoso o purulento es un signo frecuente de presentación. La mayoría se localizan en el espacio retrorrectal, donde se comunican con, o son contiguos al recto."},"it":{"name":"Duplicazione rettale","definition":"La duplicazione rettale è una malformazione anorettale congenita rara, che consiste in una massa cistica, ovoidale, contenente muco, contenente mucosa intestinale e muscolatura liscia. Di solito diventa sintomatica nell'infanzia, con infezioni ricorrenti delle vie urinarie, gastroenteriti, occlusione, sepsi perianale ed emorragie del retto. Un segno clinico caratteristico all'esordio è la fuoriuscita di muco o pus dall'ano. Nella maggior parte dei casi, la massa è localizzata nello spazio retrorettale ed è comunicante, o contigua, con il retto."},"nl":{"name":"Geïsoleerde rectale duplicatie","synonyms":["Geïsoleerde duplicatie van rectum"],"definition":"Rectale duplicatie is een zeldzame anorectale malformatie die gekarakteriseerd wordt door een ei-achtige, cystische massa gevuld met mucus en bestaande uit darmslijmvlies en glad spierweefsel. Doorgaans manifesteert de ziekte zich in de kindertijd met symptomen als terugkerende infecties van de urinewegen, gastro-enteritis, obstructie, perianale sepsis en rectale bloeding. Afvoer van mucus of etter uit de anus is ook een typisch voorkomend teken. Het overgrote deel wordt aangetroffen in de retrorectale ruimte, waar ze communiceren met of grenzen aan het rectum."},"pt":{"name":"Duplicação retal isolada"},"pl":{"name":"Zdwojenie odbytnicy"},"cs":{"name":"Cystická duplikatura rekta"},"uk":{"name":"Ректальне подвоєння","definition":"A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum."},"zh":{"name":"直肠重复畸形","definition":"直肠重复畸形是一种罕见的先天性直肠肛门畸形，其特征为肠黏膜内皮和平滑肌组成囊性粘液性卵圆形肿块，大多数位于直肠后间隙或与直肠相连。在儿童时期通常表现为反复尿路感染、肠胃炎、肠道梗阻、肛周败血病和直肠出血，典型表现为肛门排出粘液或脓液。"},"tr":{"name":"Rektal duplikasyon"}},"xrefs":[{"source":"ICD-10","code":"Q43.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB17.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1354283575"},{"source":"MONDO","code":"0015734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":684757,"name":"Malformation of the anal canal and the rectum","classifications":[147,156,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}