Anus, Imperforate

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

OMIM Number

301800

Mode of Inheritance

X-linked recessive

Description

Imperforate anus is a rare congenital malformation of the anorectal region. It is characterized by the absence or abnormal localization of the anus. The rectum may end in a blind pouch that does not connect with the colon, or it may have openings to the urethra, bladder, or vagina. 

The genetic etiology of this condition is yet not determined. Several reports strongly suggest X-linked recessive mode of inheritance. However, autosomal recessive inheritance have also been proposed in few cases. Some scientists are of the opinion that the condition could be of multifactorial inheritance.

Epidemiology in the Arab World

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Other Reports

Palestine

Soussou et al. (1974) described a family, in which three of five daughters born to a consanguineous Palestinian couple, were affected with imperforate anus and rectovaginal fistula. 

Saudi Arabia

In a total of 1386 Saudi infants admitted into the neonatal intensive care unit of Aseer Central Hospital, Asindi et al. (2002) found imperforate anus to be the leading malformation (78 cases). 

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