Cloacal Exstrophy

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Disease Ontology 12 DOID:0080175 KEGG 36 H01856

SNOMED-CT via HPO 68 12818004 157265008 16507009 18735004 197811007 203994003 204712000 204731006 20815007 249808002 253789002 29980002 34911001 371197005 3845008 397932003 414667000 41729002 48641006 61758007 68359008 69758005 95575002 95576001 more UMLS 70 C1850321

GARD : ²⁰ OEIS complex, also known as cloacal exstrophy, is the most severe birth defect within the exstrophy-epispadias complex. It is characterized by O mphalocele, E xstrophy, I mperforate anus and S pinal defects. A child with this condition will have the bladder and a portion of the intestines exposed outside the abdomen with the bony pelvis open like a book. In males, the penis is either flat and short or sometimes split. In females, the clitoris is split and there may be two vaginal openings. Also, frequently the intestine is short and the anus is not open (anus imperforate). There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities. The defect occurs when the baby is developing inside the uterus during the first trimester of pregnancy, and seems to be due to the rupture of a tissue known as the cloacal membrane which results in the abnormal development of the abdominal wall and other malformations. The timing of the rupture determines the severity of the disorder. The cause for this malformation is unknown. Treatment involves surgical repair of each malformation.

MalaCards based summary : Cloacal Exstrophy, also known as omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and bladder exstrophy. An important gene associated with Cloacal Exstrophy is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include uterus, kidney and colon, and related phenotypes are vesicoureteral reflux and hypoplasia of penis

Disease Ontology : ¹² A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.

KEGG : ³⁶ Cloacal exstrophy is an extremely rare congenital complex deformity that is associated with anterior abdominal wall defects, reflex and exposure of the cloaca (uninterrupted ureter and bowel), aproctia, a widely separated pubic bone, and defects or dysplasia of external genital organs. Cloacal exstrophy is thought to be related to abnormal development of the cloacal membrane, a transitory structure composed of endoderm and ectoderm that overlies the embryonic cloaca. The result is primarily an abdominal wall defect with failed closure of the lower urinary tract. Cloacal exstrophy has also been referred to as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defect), and other malformations of the urogenital, gastrointestinal, skeletal and neurospinal axis frequently coexist.

Wikipedia : ⁷³ Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and... more...

Search Clinical Trials , NIH Clinical Center for Cloacal Exstrophy

Search GEO for disease gene expression data for Cloacal Exstrophy.