Exstrophy and Epispadias Clinical Presentation

Updated: Jul 26, 2016
  • Author: Elizabeth B Yerkes, MD; Chief Editor: Marc Cendron, MD  more...
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Presentation

History

Antenatal ultrasonography findings suggestive of exstrophy-epispadias complex include the following:

  • Repeated failure to visualize the bladder on ultrasonography
  • Lower abdominal wall mass
  • Low-set umbilical cord
  • Abnormal genitalia
  • Increased pelvic diameter

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

  • Omphalocele
  • Limb abnormalities
  • Myelomeningocele
  • Trunk sign from prolapsed intestine

Increased use of fetal magnetic resonance imaging (MRI) may further improve the accuracy of prenatal diagnosis, but this test is not necessary if suspicion is high given ultrasonography findings.

Classic bladder exstrophy and cloacal exstrophy are obvious to all in the delivery room. 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. Patietns with cloacal exstrophy, however, are often preterm. They may have respiratory embarrassment requiring 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 anus is foreshortened. The recti 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 generally widened. The rectus muscles are divergent distally.

Nearly all patients with cloacal exstrophy have an associated omphalocele (see the image 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. A very large 46,XY newborn with cloacal exstrophy. A very large omphalocele is present, and the hemibladders flank the exstrophic cecal plate. The phallus is small and bifid, with the hemiglans and hemiscrotum located just distal to the bladder. Courtesy of Martin Kaefer, MD.
Lipomeningocele in the same newborn shown in Image Lipomeningocele in the same newborn shown in Image 6, a 46,XY newborn with cloacal exstrophy. Courtesy of Martin Kaefer, MD.

In exstrophy variants, the pubic symphysis is widely separated, and the recti 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 the differential diagnosis, although the opening is well below the umbilicus. Rectus abdominis and pubic abnormalities are found in the 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 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 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.

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. The clitoris is bifid, and the 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. The umbilicus is ve Female with covered exstrophy. The umbilicus is very low, the pubic bones are widely separated, and the rectus muscles are divergent. The bladder is intact, but the patient has undergone bladder neck reconstruction to achieve urinary continence. The external genitalia are normal. Courtesy of Elizabeth Yerkes, MD.

Musculoskeletal findings

In classic bladder exstrophy, the pubic symphysis is widely separated. Divergent rectus muscles remain attached to the pubis. External rotation of the innominate bones results in a waddling gait in ambulatory patients but does not appear to result in orthopedic problems later in life.

In cloacal exstrophy, the examination is the same as for bladder exstrophy. As many as 65% of patients have a clubfoot or major deformity of a lower extremity. 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.

Neurologic findings

In cloacal exstrophy, as many as 95% of patients have myelodysplasia, which may include myelomeningocele, lipomeningocele, meningocele, or other forms of occult dysraphism. These patients are at risk of neurologic deterioration, and they should be observed closely. Early neurosurgical consultation is appropriate if a radiographic abnormality of the spinal cord or canal is observed.

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