Exstrophyepispadias

Exstrophy-epispadias complex (EEC) is a spectrum of congenital malformations of the anterior abdominal wall, urinary tract, and external genitalia. The term includes bladder exstrophy, classic epispadias, and the more severe cloacal exstrophy. The condition results from failure of the lower abdominal wall and anterior urogenital structures to close properly during early fetal development.

Most cases are sporadic; familial recurrence is rare. The underlying mechanism involves disruption of midline mesodermal development between weeks 4 and 6 of gestation, leading to exposure of the bladder mucosa on the abdominal wall and anomalies of the urethra and genitalia. In bladder exstrophy, the bladder plate is exposed, the urethral opening is abnormal (epispadias), and there is widening of the pubic bones (pubic diastasis). In females, genital anomalies may include a widened genital opening and a bifid clitoris; in cloacal exstrophy additional intestinal exstrophy and omphalocele are common.

Diagnosis is usually clinical at birth. Prenatal ultrasound may raise suspicion, and postnatal ultrasound and other imaging assess renal function, hydronephrosis, and vesicoureteral reflux.

Management requires a multidisciplinary team. Treatment is typically staged and aims to reconstruct the bladder and urethra, close the abdominal wall, and restore genital appearance and function. Early repair may occur in the neonatal period, followed by additional procedures and long-term follow-up for continence, renal preservation, and puberty-related changes. Prognosis varies with severity and access to comprehensive care; many patients achieve social continence, though some require ongoing catheterization or urinary diversion.