Exstrophy and Epispadias Clinical Presentation

Updated: May 03, 2022
  • Author: Chad B Crigger, MD, MPH; Chief Editor: Marc Cendron, MD  more...
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Presentation

History

Accurately diagnosing exstrophy-epispadias complex (EEC) is important for proper counseling of families, especially given that patients with cloacal exstrophy tend to face more health-related issuse in their lifetimes. Antenatal diagnosis facilitates appropriate planning to optimize postnatal medical and surgical management. Historically, ultrasonography (US) has been the most helpful tool for antenatal diagnosis and relies on the presence (or absence) of key findings, as shown below.

Antenatal US findings suggestive of EEC include the following:

  • Repeated failure to visualize the bladder on US
  • Lower-abdominal-wall mass located on the anterior abdominal wall
  • Low-set umbilical cord
  • Abnormal genitalia or inability to accurately determine genitalia
  • Increased pelvic diameter

Additional antenatal US findings suggestive of cloacal exstrophy include the following:

Despite vast improvements in fetal US (fUS), only an estimated 15% of patients have been diagnosed antenatally with fUS alone; findings may be incompletely identified.

The advent of fetal magnetic resonance imaging (fMRI) has added a valuable adjunct for achieving an accurate antenatal diagnosis when fUS is unclear. The ability to compare the point of umbilical cord insertion on fMRI with that on fUS has greatly increased the rate of correct diagnosis and the ability to differentiate between cloacal and bladder exstrophy. [25]

Classic bladder exstrophy and cloacal exstrophy are obvious to all in the delivery room. Variants of EEC exist, including skin-covered bladder exstrophy, duplicate bladders, superior vesical fistula, and epispadias with major bladder prolapse. [26] Most exstrophy variants and epispadias are also identifiable at birth. Unrecognized female epispadias may present as persistent childhood incontinence. Unrecognized split-symphysis variants of exstrophy may be identified in childhood only because of persistent incontinence or a waddling gait.

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Physical Examination

General findings

Patients with classic bladder exstrophy or epispadias typically appear as term infants. Patients with cloacal exstrophy, however, are often preterm. They may have respiratory immaturity necessitating mechanical ventilation.

Abdominal findings

In classic bladder exstrophy (see the images below), the bladder is open on the lower abdomen, with mucosa fully exposed through a triangular fascial defect. The abdominal wall appears long because of a low-set umbilicus on the upper edge of the bladder plate. The distance between the umbilicus and the anus is foreshortened. The rectus muscles diverge distally, attaching to the widely separated pubic bones. Indirect inguinal hernias are frequent (>80% of males, >10% of females) because of wide inguinal rings and the lack of an oblique inguinal canal.

Open bladder plate and urethra with bifid clitoris Open bladder plate and urethra with bifid clitoris in female patient with classic bladder exstrophy. Note low-set umbilicus and anteriorly displaced anus. Courtesy of Richard Rink, MD.
Male with classic bladder exstrophy. Note low-set Male with classic bladder exstrophy. Note low-set umbilicus and short, broad, upturned phallus. Distance between phallus and scrotum is abnormal. Courtesy of Richard Rink, MD.

In epispadias, the pubic symphysis is still generally widened, though to a lesser degree than in classic bladder exstrophy or cloacal exstrophy. The rectus muscles are divergent distally.

Nearly all patients with cloacal exstrophy have an associated omphalocele (see the images below). The bladder is open and separated into two halves, flanking the exposed interior of the cecum. Openings to the remainder of the hindgut and to one or two appendices are evident within the cecal plate. Terminal ileum may prolapse as a "trunk" of bowel onto the cecal plate.

46,XY newborn with cloacal exstrophy. Very large o 46,XY newborn with cloacal exstrophy. Very large omphalocele is present, and hemibladders flank exstrophic cecal plate. Phallus is small and bifid, with hemiglans and hemiscrotum located just distal to bladder. Courtesy of Martin Kaefer, MD.
Male infant with cloacal exstrophy. Note large omp Male infant with cloacal exstrophy. Note large omphalocele with separated hemibladders and genitalia with protruding ileocecal segment yielding classic "elephant trunk" deformity. Courtesy of John P Gearhart, MD.

In exstrophy variants, the pubic symphysis is widely separated, and the rectus muscles diverge distally. The umbilicus is low or elongated. A small superior bladder opening or a patch of isolated bladder mucosa may be present. The intact bladder may be externally covered by only a thin membrane. Isolated ectopic bowel segments have been reported.

Patent urachus is a differential diagnosis for the superior vesical fissure variant of exstrophy-epispadias (see the image below). However, patent urachus lacks the typical musculoskeletal abnormalities of exstrophy and is open at the umbilicus. Superior vesical fissure is infraumbilical.

Superior vesical fissure variant of exstrophy. Gen Superior vesical fissure variant of exstrophy. Genitalia are normal. Patent urachus is considered in differential diagnosis, although opening is well below umbilicus. Rectus abdominis and pubic abnormalities are found in exstrophic variant but not with patent urachus. Courtesy of Richard Rink, MD.

Genital findings

(In describing the anatomy of the penis, the terms dorsal and ventral refer to a normal phallus in the erect state. The dorsal surface is in continuity with the abdominal wall, and the ventral surface is in continuity with the scrotum.)

In classic bladder exstrophy in males, the phallus is short (~50% shorter) and broad (~30% wider) with upward curvature (dorsal chordee). [27] The glans lies open and flat like a spade, and the dorsal component of the foreskin is absent. The urethral plate extends the length of the phallus without a roof. The bladder plate and urethral plate are in continuity, with the verumontanum and ejaculatory ducts visible within the prostatic urethral plate. The anus is anteriorly displaced with a normal sphincter mechanism.

In classic bladder exstrophy in females, the clitoris is uniformly bifid with divergent labia superiorly. The open urethral plate is in continuity with the bladder plate. The vagina is anteriorly displaced. The anus is anteriorly displaced with a normal sphincter mechanism.

In male epispadias (see the image below), the phallus is short and broad with upward curvature (dorsal chordee). The glans lies open and flat like a spade, and the dorsal component of the foreskin is absent. The urethral meatus is located on the dorsal penile shaft, anywhere between the penopubic angle and the proximal margin of the glans. The prepuce is usually deficient dorsally but may be intact in the mild forms of the condition.

Penopubic epispadias in male patient. Typical spad Penopubic epispadias in male patient. Typical spadelike configuration of glans penis with incomplete foreskin, dorsal urethral plate, and open bladder neck. Courtesy of Richard Rink, MD.

In female epispadias (see the images below), the clitoris is most often bifid with divergent labia superiorly. The dorsal aspect of the urethra is open distally. The urethra and bladder neck are patulous and may allow visualization of bladder. Bladder mucosa may prolapse through the bladder neck.

External view in female patient with epispadias. L External view in female patient with epispadias. Labia are separated anteriorly. Courtesy of Richard Rink, MD.
Female patient with epispadias with labia retracte Female patient with epispadias with labia retracted. Clitoris is bifid, and urethra is open dorsally. Courtesy of Richard Rink, MD.

In cloacal exstrophy, the penis is generally quite small and bifid, with a hemiglans located just caudal to each hemibladder. Infrequently, the phallus may be intact in the midline. In females, the clitoris is bifid, and two vaginas are present. The anus is absent.

In exstrophy variants, the genitalia generally are intact (see the image below), though epispadias can occur.

Female with covered exstrophy. Umbilicus is very l Female with covered exstrophy. Umbilicus is very low, pubic bones are widely separated, and rectus muscles are divergent. Bladder is intact, but patient has undergone bladder neck reconstruction to achieve urinary continence. External genitalia are normal. Courtesy of Elizabeth Yerkes, MD.

Musculoskeletal findings

The abnormal pelvis is a hallmark of atypical anatomy seen in EEC.

In classic bladder exstrophy, the pubic symphysis is widely separated by an average of 4.8 cm, with an overall 30% shortening of bone length, a 12º external rotation of the posterior segment of the pelvis, and an 18º external rotation of the anterior segment. Divergent rectus muscles remain attached to the pubis. External rotation of the innominate bones results in a waddling gait in ambulatory patients but usually corrects after treatment and does not appear to result in orthopedic problems later in life.

In cloacal exstrophy, the same defects are seen but are more severe: The average pubic diastasis exceeds 6 cm, there is an overall 43% decrease in bone length. As many as 65% of patients have a clubfoot or another major lower-extremity deformity. As many as 80% of patients have vertebral anomalies.

In split-symphysis variants of exstrophy, the pubic symphysis is widely separated (see the image below), and the rectus muscles are divergent.

Typical appearance of pelvis in patient with exstr Typical appearance of pelvis in patient with exstrophy-epispadias complex with wide separation of pubic symphysis.

The maldevelopment of the bony pelvis influences the pelvic floor. Three-dimensional (3D) computed tomography (CT) imaging of children with exstrophy revealed that the levator ani muscles are positioned more posteriorly and the urogenital diaphragm is less concave. The paucity of anterior pelvic-floor musculature and the lack of a conical shape drive the surgical technique employed in reconstructing the bony pelvis and the pelvic floor (see Surgical Care).

Neurologic findings

In cloacal exstrophy, spinal dysraphism (eg, tethered cord, myelomeningocele, or lipomyelomeningocele) is present in some form in 64-100% of patients, with 80% of lesions found in the lumbar region. [2, 28]  Vertebral anomalies other than dysraphism are also common and include hemivertebrae with associated scoliosis (seen in 40% of patients, though the scoliosis does not appear to progress in most instances). [29] In view of the high incidence of spinal and vertebral anomalies, MRI evaluation of a newborn with cloacal exstrophy is warranted, with neurosurgical involvement as needed. 

Gastrointestinal anomalies

Within EEC, gastrointestinal (GI) anomalies are more commonly seen in patients with cloacal exstrophy, nearly all of whom have some defect. GI defects include omphalocele (88-100% of cases), short-bowel syndrome (25% of cases), and duplication anomalies, gastroschisis, malrotation, duodenal atresia, and exstrophied colonic segments (46% of cases). [30, 31, 28] Imperforate anus is also very common, with an incidence approaching 100% in patients with cloacal exstrophy. The wide range of these GI anomalies presents a significant potential for morbidity, underlying the importance of optimal perioperative nutrition. 

Other urologic anomalies

Anomalies of the upper urinary tract are common, occurring in as many as 41-66% of patients with cloacal exstrophy. Particular attention to identifying and understanding the patient's upper tract anatomy is vital: Unilateral renal agenesis, pelvic kidney, or hydronephrosis is seen in as many as 48% of cases, with multiple concomitant renal anomalies in 16% of cases. [32] Less frequently reported defects include horseshoe kidney, fusion anomalies, and ureteral abnormalities (eg, megaureter and duplication). 

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Complications

Inguinal hernias are common, arising from incomplete formation of the lower abdominal wall, abnormal pelvic floor musculature, and bony pelvis, which results in a lack of obliquity of the inguinal canal. Hernias have been reported in nearly 90% of males with exstrophy but only 10% of females. [33] It is recommended to explore the inguinal canals at the time of exstrophy closure. 

Bladder-plate irritation (from direct exposure and desiccation with insufficient moistening care) can result in bladder polyps. If such polyps are present before closure, they are hamartomatous polyps and should be removed before closure if numerous. If, however, they present after closure (eg, failure and at the time of secondary closure), metaplastic elements may be seen in 50% of cases (most commonly, cystitis glandularis). In view of the potential risk of adenocarcinoma, patients should be routinely screened with urine cytology and cystoscopy as they enter adulthood. 

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