imperforate anus

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Related to imperforate anus: Hirschsprung disease
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Words related to imperforate anus

a congenital defect of the anus

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Imperforate anus is a rare congenital defect where the anus has no opening.
There is a 40% incidence of coexistant anatomical abnormalities: choledochocele, annular pancreas, double diverticula, intestinal malrotation, imperforate anus, Hirschsprung's disease, congenital heart diseases, omphalocele, hypoplastic kidneys, bladder exstrophy, situs inversus, Ladd's bands, portal vein anomalies, polysplenia and Down syndrome (6,7).
1-3) Other abnormalities include imperforate anus, renal agenesis or dysgenesis, internal genital organ agenesis except for the gonads, absent or hypoplastic renal arteries, oligohydramnios and presence of aberrant vasculature.
The fifth case (F508del/S1235R) also presented with a prenatally diagnosed DiGeorge syndrome (cardiac malformation) with an imperforate anus detected at birth (29 weeks).
Irregularities negatively linked to clefts were congenital heart defects, spina bifida, and VATER complex (vertebral defects, imperforate anus, tracheo-esophageal fistula, and radial and renal dysplasia).