Pediatric Cloacal Anomaly

Cloacal anomaly is one of the most complex congenital conditions affecting the pelvic organs and requires highly specialized care from birth through adolescence. This rare condition occurs only in female infants and develops when the rectum, vagina and urinary tract do not form as separate structures. Instead, they merge into a single channel, resulting in just one opening on the perineum rather than the usual three—one each for the urethra, vagina and anus.

Cloacal anomalies are typically identified at birth due to the absence of normal anatomy in the perineal area. However, additional imaging is often needed to fully understand the extent of the condition. Severity can vary widely and may include malformations of the urinary system, reproductive tract and colorectal structures. Early diagnosis and a coordinated, multidisciplinary treatment plan are essential to achieving optimal long-term outcomes.

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Because cloacal anomaly involves the fusion of multiple organ systems, symptoms can include:

• Absence of separate openings for the urethra, vagina and anus
• Abdominal distension due to inability to pass stool or urine
• Frequent urinary tract infections
• Poor drainage of stool or urine
• Hydronephrosis (swelling of the kidneys) or kidney dysfunction
• Vaginal or uterine abnormalities
• Genital underdevelopment

Some symptoms may not become evident until imaging studies are performed or when associated anomalies begin to cause clinical issues.

Cloacal anomaly affects approximately 1 in 50,000 live births and occurs only in females. The exact cause is unknown, but the condition develops early in fetal development typically between the fifth and seventh week of gestation when the urinary, genital and intestinal tracts are supposed to separate. When this separation does not occur properly, the tracts fuse into a single common channel.

Like many congenital malformations, cloacal anomalies can occur in isolation or as part of a syndrome. Some children with cloacal anomalies also have other associated birth defects, such as:

• Renal (kidney) abnormalities
• Spinal cord or vertebral malformations
• Cardiac anomalies
• Limb abnormalities

Diagnosis often begins at birth based on physical findings, but a full evaluation requires advanced imaging to understand the anatomy of the cloacal channel and associated structures. Diagnostic studies may include:

• Ultrasound
• Assesses the kidneys and bladder
• Screens for hydrocolpos (fluid-filled vagina)
• Evaluates the spinal cord
• Exam under Anesthesia (EUA) with Cystoscopy and Vaginoscopy
• Allows for direct visualization of the structures. Measurements can be performed at the same time.
• If combined with a fluoroscopy or CT cloacagram, catheter placement can be done at the time of EUA.
• Fluoroscopy and CT Cloacagram
• Fluoroscopy studies combined with CT cloacagram help define the internal structure of the cloacal channel.
• Contrast is injected into the different structures to create a 3D image.
• These imaging studies help guide surgical planning.
• Pelvic and Abdominal MRI
• More often used in older children, particularly after puberty
• Provides detailed information about anatomy of the urinary, genital and rectal systems
• Spinal MRI
• Evaluates associated spinal or sacral anomalies
• Echocardiogram
• Evaluates the heart for any congenital anomalies
• X-rays
• Assesses vertebral abnormalities or other skeletal issues

Children diagnosed with cloacal anomaly often undergo evaluation for associated conditions under the umbrella of the VACTERL association:

• Vertebral defects
• Anorectal malformation
• Cardiac anomalies
• Tracheoesophageal fistula
• Esophageal atresia
• Renal (kidney) anomalies
• Limb abnormalities

As part of the Comprehensive Congenital Colorectal Program at Children’s Memorial Hermann Hospital, our team specializes in the early diagnosis, surgical reconstruction and long-term management of cloacal anomalies.

Treatment requires a highly coordinated, multidisciplinary approach to reconstruct the urinary, genital and intestinal systems. Through the Comprehensive Congenital Colorectal Program at Children’s Memorial Hermann Hospital, patients receive individualized care from a team of affiliated pediatric specialists from UTHealth Houston, including surgeons, urologists, gynecologists, nephrologists, gastroenterologists, neurosurgeons and nurses—all working together to help each child achieve optimal outcomes.

Initial management often involves:

• Colostomy – to divert stool and protect the developing anatomy while the child grows
• Drainage of hydrocolpos – to prevent urinary tract obstruction and kidney damage
• Urinary diversion - if necessary, for severe urinary tract issues

Surgical repair:

• Exam under anesthesia – Typically performed around 6 months of age to clearly define the anatomy and plan for reconstructive surgery. Small cameras (cystoscopes) are used to measure the lengths of the common channel, urethra and the vagina. This is often done in conjunction with a radiology study or “cloacagram.”
• Reconstruction surgery – Typically performed between 6 and 12 months of age, this complex procedure creates separate channels for the rectum, vagina and urethra. The specific approach depends on the length of the common channel and the anatomy of the internal organs.

Children born with cloacal anomaly often require lifelong medical care and support. Outcomes vary based on the complexity of the malformation, the presence of associated anomalies and how early the diagnosis and treatment occur.

Potential long-term considerations include:

• Urinary function – Some patients may require catheterization or urinary diversion.
• Depending on bladder function and capacity, some children may require procedures such as bladder neck reconstruction, bladder augmentation or the creation of a catheterizable channel (Mitrofanoff).
• Some children may require catheterization to empty the bladder and prevent urinary tract infections or kidney damage.
• Bowel control – Many children benefit from a bowel management program that includes diet, medications and/or enemas.
• Some patients benefit from additional surgical procedures in later childhood to help with stool continence, such as a Malone Antegrade Continence Enema (MACE).
• Reproductive health – Most girls with cloacal anomaly have a uterus and ovaries, but may need future surgeries or hormonal support to aid menstruation or fertility.
• Vaginal reconstruction – Some patients require additional vaginal reconstruction at a later stage, after they reach puberty.
• Psychosocial support – Due to the intimate nature of the condition, psychological counseling and support groups can help children and families navigate puberty and adulthood.

With specialized care, many children with cloacal anomalies go on to lead active, fulfilling lives.

At Children’s Memorial Hermann Hospital, we provide compassionate, personalized care for children with bladder exstrophy and related urologic conditions. Through the Comprehensive Congenital Colorectal Program, families have access to the latest surgical techniques, advanced bowel/bladder management and coordinated, long-term support.

Through our affiliation with UTHealth Houston¹, we bring together a skilled multidisciplinary team with deep experience in treating colorectal conditions. Every child’s treatment plan is personalized to their anatomy, needs and long-term goals from infancy through adolescence and beyond.

If you have any questions, use the online tool below to help us connect with you. To refer a patient or schedule an appointment, please contact our clinic using the information below.

¹ Affiliated physicians evaluate patients at UT Physicians clinic locations and perform all inpatient procedures and treatments at Children’s Memorial Hermann Hospital.