imperforate anus; anorectal malformation; anal atresia

Epidemiology

• occurs in about 1 out of 5,000 infants

Pathology

• rectum may end in a blind pouch that does not connect with the colon
• rectum may have openings to the urethra, bladder, base of the penis or scrotum in boys, or vagina in girls
• may be stenosis of the anus or no anus
• associated with an increased incidence of other congenital anomalies, together the pneumomov VACTERL:
• V - Vertebral anomalies
• A - Anal atresia
• C - Cardiovascular anomalies
• T - Tracheoesophageal fistula
• E - Esophageal atresia
• R - Renal &/or radial anomalies L - Limb defects

Clinical manifestations

• baby does not pass first stool within 24-48 hours of birth
• missing or moved opening to the anus
• stool passes out of the vagina, base of penis, scrotum, or urethra
• swollen belly area

Management

• urgent surgery to correct the defect
  • perineal anoplasty
  • colostomy