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.
Soussou et al. (1974) described a family, in which three of five daughters born to a consanguineous Palestinian couple, were affacted with imperforate anus and rectovaginal fistula.
In a total of 1386 Saudi infants admitted into the neonatal intensive care unit of Aseer Central Hospital, Asindi et al. (2002) foud imperforate anus to be the leading malformation (78 cases).
Al Talabani et al. (1998) studied the pattern of all major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, during the period from 1992 to 1995. Six cases with imperforate anus were observed in families from the United Arab Emirates. Recurrence was not reported in other members of the families.