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Etiology of imperforate anus

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Causes. Imperforate anus is a...

Imperforate anus is a rare inborn abnormality characterized by the absence or abnormal localization of the anus. The rectum or the colon may be connected to the vagina or the bladder by a tunnel fistula.

With surgical correction, normal elimination can become possible. Imperforate anus is an abnormality present at birth, and characterized by Etiology of imperforate anus absence of the normal opening of the anus. Elimination of feces may not be possible until surgery is performed.

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In some cases the rectum opens into the lower part of the vagina in females, or close to the scrotum in males. Imperforate anus is a birth defect that usually appears to occur randomly for unknown reasons sporadically. Less commonly, the condition may be familial, suggesting autosomal dominant, autosomal recessive, or X-linked recessive inheritance.

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In addition, some researchers suggest that the condition may be Etiology of imperforate anus by changes mutations of one or more genes, possibly in association with particular environmental factors multifactorial inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.

The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.


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