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.