What are the other Names for this Condition? (Also known as/Synonyms)

• Cloacogenic Bladder

What is Persistent Cloaca? (Definition/Background Information)

• Persistent Cloaca is an extremely uncommon congenital abnormality wherein there is a single, but combined, opening for the rectum, vagina, and urethra. This “single opening” is located where the urethral opening should normally be present
• In Persistent Cloaca, there is a fusion of the rectum, vagina, and urinary tract to cause the formation of a single structure called the cloaca. It is a rare birth anomaly of unknown cause. It is believed to arise from certain fetal growth anomalies
• The signs and symptoms of Persistent Cloaca may include an inability to pass urine or stool, abnormal external genitalia, abnormal rectal/vaginal opening, and presence of an abdominal mass. There may be potential long-term complications from malformed genitourinary and gastrointestinal structures
• The management of Persistent Cloaca may require the concerted effort by a team of healthcare specialists. The treatment may involve multiple surgeries to correct the abnormalities/defects. The prognosis of the condition depends on several factors and may be assessed only on an individual case-by-case basis

Who gets Persistent Cloaca? (Age and Sex Distribution)

• Persistent Cloaca is a very rare condition that manifests at birth (infants and young children)
• The incidence of the condition is around 1 in 20,000 to 50,000 live births
• Both males and females are affected, and no gender preference is reported
• The condition is observed worldwide; all racial and ethnic groups may be affected

What are the Risk Factors for Persistent Cloaca? (Predisposing Factors)

• There are no clearly established risk factors for Persistent Cloaca
• It may be associated with other congenital abnormalities that affect the gastrointestinal and genitourinary systems

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Persistent Cloaca? (Etiology)

The cause of formation of Persistent Cloaca is presently unknown.

• It may be caused by an embryologic defect of unknown origin (abnormal fetal growth and development)
• Failure of the urogenital septum to divide rectum from urogenital sinus results in the abnormality Persistent Cloaca

The condition is not caused by what the expectant mother does or does not do, either prior to or during pregnancy.

What are the Signs and Symptoms of Persistent Cloaca?

Persistent Cloaca may present significant signs and symptoms, depending on the severity of the condition and the presence of other associated birth defects. The length of the cloaca is a determinant of the severity of the condition. It may measure anywhere from 1 to 10 cm. The smaller the length of the cloaca, the better is the outcome.

The signs and symptoms of Persistent Cloaca observed in the newborn may include:

• Presence of a disc-like structure on the abdomen; abdominal mass
• Abnormal rectal/vaginal opening
• Indistinct external genitalia
• Inability to pass urine
• Inability to pass stool

There may be a host of other congenital anomalies present with Persistent Cloaca such as:

• Imperforate anus
• Absent genital orifice
• Absent urinary orifice
• Renal agenesis (lack of kidney development)
• Absence of prostate gland
• Absence of seminal vesicles
• Gastrointestinal abnormalities
• Hydrocolpos: Enlarged vagina due to accumulated fluids such as urine or mucus
• Congenital heart disease
• Duplicated müllerian system
• Hernias

How is Persistent Cloaca Diagnosed?

The following tests and exams may be performed towards establishing a diagnosis of Persistent Cloaca:

• Complete evaluation of medical history along with thorough physical exam
• Assessment of presenting symptoms
• Prenatal ultrasound scans may reveal fetal abnormalities
• Kidney function tests
• Radiological imaging studies to determine the extent of the condition, which may include:
  • X-ray studies
  • Ultrasound studies
  • CT and MRI scans
  • Cystoscopy
  • Vaginoscopy
  • Endoscopy
  • 3D cloacagram

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Persistent Cloaca?

The complications of Persistent Cloaca depend on the severity of the condition and the presence of other birth defects. The complications may include:

• Severe emotional stress for the parents
• Meconium peritonitis (rupture of bowel before birth)
• Presence of bladder and/or kidney cysts
• Long-term urogenital abnormalities
• Kidney damage
• Stillbirths
• Damage to the muscles, vital nerves, and blood vessels, during surgery
• Post-surgical infection at the wound site

How is Persistent Cloaca Treated?

• A multidisciplinary team of specialists including pediatricians, urologists, nephrologists, surgeons, and other healthcare professionals are involved in managing Persistent Cloaca
• Corrective (multiple) surgeries may be necessary to address Persistent Cloaca, in order to achieve optimal functional outcomes of the urinary bladder, gastrointestinal, and reproductive systems

The treatment goal is to ensure good bowel control and normal urinary function.

How can Persistent Cloaca be Prevented?

Currently, there are no specific methods or guidelines to prevent Persistent Cloaca, since it is a congenital condition.

• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of such disorders
• Regular medical screening at periodic intervals with tests and physical examinations are highly recommended

What is the Prognosis of Persistent Cloaca? (Outcomes/Resolutions)

• The prognosis of Persistent Cloaca depends on the severity of the condition, and the presence of any complications. Typically, the prognosis may be assessed on an individual case-by-case basis
• It is reported that the shorter is the length of the cloaca, the better is the prognosis. A cloacal length of 3 cm and more, may present a poorer prognosis. Consequently, this may necessitate extensive corrections and multiple surgical repairs 

Additional and Relevant Useful Information for Persistent Cloaca:

Please visit our Kidney & Bladder Health Center for more physician-approved health information:

https://www.dovemed.com/healthy-living/kidney-health/