Cloacal exstrophy is a very rare birth defect. It happens when a baby’s lower tummy (abdomen), bladder, intestines, bottom (anus), and sometimes the spine and sex organs do not form in the usual way before birth. These organs can be open on the outside of the body at birth, instead of being closed inside. Because many body systems are involved, babies with cloacal exstrophy need care from many specialists and several surgeries over time.
Cloacal exstrophy (also called the OEIS complex) is a very rare and very severe birth defect in which the lower abdominal wall does not form properly, so parts of the intestines and the bladder are exposed on the outside of the body at birth, together with an omphalocele (abdominal wall defect at the umbilicus), an imperforate anus, and often spinal and genital abnormalities.
In simple words, a baby with cloacal exstrophy is born with the bladder split into two open halves, the bowel partly open on the surface, and no normal anal opening, so emergency care and staged reconstructive surgery are needed to protect life, kidneys, and bowel.
Doctors see cloacal exstrophy as the most severe form in a group of conditions called the “exstrophy–epispadias complex.” In this group, the front wall of the bladder and lower abdomen do not close properly. Cloacal exstrophy is at the very severe end of this spectrum and is sometimes called the OEIS complex, because it usually includes an Omphalocele, bladder Exstrophy, Imperforate anus, and Spinal defects.
Cloacal exstrophy is present at birth (congenital). It is very uncommon, happening in about one in 200,000–300,000 births. Doctors do not fully understand why it happens, but they know it starts very early in pregnancy, when the baby’s body wall and lower organs are forming.
Other names
Doctors and scientists may use several names for the same condition. These are other names for cloacal exstrophy:
-
OEIS complex or OEIS syndrome – stands for Omphalocele, Exstrophy, Imperforate anus, Spinal defects.
-
Exstrophy of the cloaca (EC) – another medical term describing the same main problem.
-
Vesico-intestinal fissure – older term that means the bladder and bowel are split and open.
-
Cloacal exstrophy of the bladder and bowel – description that highlights both bladder and intestine being affected.
Types and patterns
Doctors do not have one simple “official” list of types, but they do see some common patterns. These “types” help them describe what they see and plan treatment.
1. Typical (complete) cloacal exstrophy
In the typical form, the bladder is open and split into two halves, with a piece of intestine (the cecal plate) between them. There is usually an omphalocele (a sac with liver or intestine at the belly button), no normal anal opening, and spinal defects. This is the classic OEIS picture.
2. Atypical or variant cloacal exstrophy
Some babies have most, but not all, of the classic features. For example, the bladder may be open but not evenly split, or the omphalocele may be small or absent. Genital and spinal changes may also vary. These are called variants or atypical forms, and they still need very careful evaluation.
3. Cloacal exstrophy as part of exstrophy–epispadias spectrum
In some children, cloacal exstrophy is discussed together with milder conditions like classic bladder exstrophy and epispadias. In this “spectrum,” doctors look at how open the bladder and abdominal wall are and how many other organs are involved, to decide where the child fits and what surgery is best.
4. Prenatally diagnosed vs. postnatally diagnosed cloacal exstrophy
Some babies are diagnosed before birth by ultrasound and fetal MRI. Others are diagnosed only after delivery, when doctors see the abdominal wall defect and exposed organs. The pattern of diagnosis (before or after birth) is not a different disease type, but it changes how the pregnancy and delivery are planned.
Causes
Researchers believe cloacal exstrophy starts from a major error very early in embryo development, but for most families no single clear cause is found. Many “causes” below are better understood as possible risk factors or mechanisms, not guaranteed reasons.
1. Early body-wall development error
A main idea is that the lower front body wall does not close properly in very early pregnancy. This leaves a large opening where the bladder, intestines, and other organs can protrude and remain open.
2. Abnormal formation of the cloaca
The cloaca is an early common chamber for urinary, bowel, and reproductive tracts. In cloacal exstrophy, this chamber does not divide and close in the usual way, which leads to a severe split and exposure of these systems.
3. Failure of the infra-umbilical abdominal wall to close
The part of the abdominal wall below the belly button should close and form strong muscles and skin. In cloacal exstrophy, this closure fails, leaving a large defect for the bladder and intestines to come through.
4. Vascular disruption early in pregnancy
Some scientists think that a problem with blood flow to the early embryo may damage the forming lower abdomen and cloaca. This “vascular disruption” could explain why several structures in the same area are affected together.
5. Genetic susceptibility
Most babies with cloacal exstrophy do not have a known single-gene disorder, but some studies suggest that changes in certain genes involved in midline and spinal development (for example some homeobox genes) may increase risk in some families.
6. Epigenetic and developmental factors
Epigenetic factors are switches that turn genes on or off. Researchers think that abnormal epigenetic signals in early blastogenesis (very early cell dividing stage) may disturb how the cloaca and body wall form, even without visible gene mutations.
7. Certain anti-seizure medicines in pregnancy
Some reports link medicines like valproic acid and diphenylhydantoin (used for epilepsy) to OEIS complex and related body wall defects when taken in early pregnancy. These are considered possible teratogens (drugs that can disturb fetal development), not guaranteed causes.
8. Sedative drugs such as diazepam
Case reports have also mentioned diazepam used in early pregnancy as a possible risk factor. The evidence is limited, but it suggests that some sedative medicines might play a role in a small number of cases.
9. Illegal or stimulant drugs (for example methamphetamine)
Use of drugs like methamphetamine during pregnancy has been reported in some OEIS cases. These substances can affect blood flow and development and may contribute to body wall and spinal defects.
10. Assisted reproduction (for example IVF)
Some reports have linked in-vitro fertilization (IVF) and other assisted reproduction methods with an increased rate of complex malformations like OEIS, though the absolute risk is still very small and not fully proven.
11. Twin or multiple pregnancy
Cloacal exstrophy and OEIS have been described more often in twins and multiple pregnancies than expected by chance. Sharing a placenta or blood supply in twins may increase developmental stress in the early embryo.
12. Maternal diabetes and metabolic problems (possible)
Poorly controlled maternal diabetes is known to increase the risk of many birth defects, including those affecting the spine and body wall. It is suspected, but not firmly proved, that it may also raise the risk of cloacal exstrophy in some cases.
13. Maternal infections (possible)
Some infections during early pregnancy can disturb organ formation. While no single infection is clearly linked to cloacal exstrophy, in general, serious infections at this time may raise the chance of complex malformations.
14. Maternal alcohol use
Alcohol is a known teratogen and can harm developing organs and midline structures. Some OEIS case reports mention maternal alcohol use, suggesting it may contribute as a risk factor in some pregnancies.
15. Smoking and environmental toxins
Cigarette smoke and certain environmental chemicals reduce oxygen and damage blood vessels. They are linked to many birth defects, and may also play a role in early vascular disruption that could contribute to cloacal exstrophy, though evidence is indirect.
16. Poor folate and nutritional deficiency
Low folate (vitamin B9) is clearly linked to spinal tube defects. Because OEIS includes spinal and midline problems, inadequate folate or poor early pregnancy nutrition is considered a possible contributing factor in some babies.
17. Family history of midline or exstrophy defects
Most cases are isolated, but rarely cloacal exstrophy or related exstrophy conditions can occur in more than one family member, suggesting some inherited susceptibility to midline closure problems.
18. Combined genetic and environmental effects
Many researchers think cloacal exstrophy needs both a susceptible genetic background and harmful environmental exposures. Together, these may push early development off course and cause the complex defect.
19. Random events in early development
Even without visible risk factors, small random errors in cell growth or tissue fusion can lead to big changes in how the body forms. Cloacal exstrophy may sometimes result from such chance events during blastogenesis.
20. Cause unknown in most babies
In practice, for most families, doctors never find a clear single cause. They can explain what went wrong in development, but not exactly why it happened to that specific baby. This is important for counseling and for reducing blame on the parents.
Symptoms and signs
Because cloacal exstrophy is present at birth, most “symptoms” are visible features and physical problems rather than things the baby can describe.
1. Large opening in the lower abdomen
A key sign is a big defect in the lower front of the abdomen, usually below the belly button. Through this opening, the bladder and intestines are partly visible or open, instead of being inside the body.
2. Split and open bladder (two hemibladders)
The bladder is usually divided into two halves that sit on either side of a central piece of bowel. Urine drains from each half instead of from a closed bladder inside the pelvis.
3. Omphalocele at the belly button
Many babies have an omphalocele, where organs like intestine or liver lie in a thin sac at the umbilicus. This is part of the OEIS pattern and needs careful protection and later closure.
4. No normal anal opening (imperforate anus)
The baby usually has no opening where stool should come out. Instead, the bowel may end in a blind pouch or open abnormally near the bladder or abdominal wall.
5. Abnormal genital appearance
The external genitals are often very different from usual. In boys, the penis can be split and small; in girls, the clitoris and labia can be separated or under-developed. It can be hard to tell the baby’s sex just by looking.
6. Spinal and lower back problems
Spinal defects, such as spina bifida or abnormal lower vertebrae, are common in OEIS. These can affect leg strength, sensation, and bladder and bowel control over time.
7. Leg or foot deformities (for example clubfoot)
Babies may have foot problems like talipes (clubfoot), hip issues, or other limb differences. These are part of the wider pattern of musculoskeletal changes in the lower body.
8. Kidney and urinary tract abnormalities
The kidneys and ureters may be abnormal in shape, position, or drainage. This can lead to urine backflow, infections, and risk of kidney damage without proper monitoring and treatment.
9. Problems passing urine and stool
Because the urinary and bowel passages are not formed normally, babies cannot pass urine or stool in the usual way. They need early surgical procedures (like stomas) to allow safe drainage.
10. Repeated urinary or kidney infections
Over time, abnormal urine flow and stomas can increase the risk of urinary tract infections. Without good care, this can threaten kidney health, so long-term follow-up is essential.
11. Feeding and growth problems in infancy
Because of multiple surgeries and complex anatomy, some babies have trouble feeding and gaining weight. They may need special nutrition support, especially just after birth and after operations.
12. Difficulty with continence later in life
As children grow, staying dry (urinary continence) and clean (bowel continence) is often a major challenge. Many need staged surgeries and devices to help store and empty urine and stool safely.
13. Sexual and fertility challenges in adolescence/adulthood
Because the reproductive organs are affected, some patients have limited sexual function or fertility. With modern care and counseling, many can still have intimate relationships and, in some cases, pregnancy with high-risk specialist support.
14. Chronic pain or discomfort
Some patients have chronic pelvic, back, or abdominal pain from repeated surgeries, spinal issues, or musculoskeletal changes. Pain management and physical therapy are often needed.
15. Emotional and social impact
Living with a rare, visible condition and multiple surgeries can affect body image, mood, and social life. Psychological support and peer groups can greatly help patients and families.
Diagnostic tests
Physical examination (general)
1. Newborn physical examination
Right after birth, doctors carefully look at the baby’s abdomen, genital area, spine, limbs, and anus. The large lower abdominal opening, split bladder, omphalocele, and absent anal opening usually make the diagnosis clear on first exam.
2. Detailed abdominal and skin inspection
The team inspects the abdominal wall, the omphalocele sac, and exposed organs. They assess the size of the defect, the condition of tissues, and signs of infection or injury, which helps plan urgent protection and surgery.
3. Neurological and spine examination
Doctors check leg movement, reflexes, and sensation, and inspect the spine and lower back skin. Findings can suggest spinal cord defects, which affect future walking and continence.
4. Limb and joint examination
The baby’s hips, knees, and feet are examined for problems like clubfoot or hip dislocation. Early recognition guides orthopedic treatment and physical therapy.
5. Cardiovascular and overall physical check
Because major surgery is needed, doctors examine the heart, lungs, and circulation to detect any extra problems. This helps decide timing and safety of operations.
Manual tests and endoscopic evaluation
6. Gentle palpation of abdomen and pelvis
Careful hand examination helps the surgeon feel the edges of bones, sac, and exposed organs. This tactile information adds to imaging and guides how to close the abdomen and position organs.
7. Genital and perineal examination under anesthesia
Later, under anesthesia, surgeons examine the genital area and perineum more closely. They look for openings, short channels, and tissue quality to plan reconstruction of urethra, vagina, and perineal structures.
8. Rectal and pouch assessment under anesthesia
If a short rectal pouch is present, surgeons may gently explore its length and position during anesthesia. This helps decide how and when a pull-through operation for the bowel can be done.
9. Endoscopy of urinary tract
Cystoscopy (looking into the bladder and urethra with a small camera) may be used later in childhood to see how the reconstructed bladder and channels look inside, and to check for narrowings or stones.
10. Endoscopy of bowel and reproductive tract
Colonoscopy or vaginoscopy may be used in older children to inspect the intestine or vagina. This helps understand internal anatomy, check for inflammation, and plan further reconstruction if needed.
Laboratory and pathological tests
11. Complete blood count (CBC)
A CBC checks red blood cells, white blood cells, and platelets. It helps detect anemia, infection, or bleeding problems before and after surgery, which is important in babies with major defects and operations.
12. Kidney function tests (urea, creatinine, electrolytes)
Blood tests for kidney function show how well the kidneys are filtering waste and balancing salts. This is crucial because abnormal urinary anatomy and infections can stress the kidneys.
13. Urinalysis and urine culture
These tests look at cells, protein, and bacteria in the urine. They help detect early urinary tract infections, which are common when the urinary system is abnormal or after reconstruction.
14. Blood chemistry and nutrition markers
Levels of electrolytes, proteins, and other nutrients are checked regularly, especially after surgery and during parenteral or special feeding. This helps keep the baby stable and supports healing.
15. Genetic and chromosomal tests
Although most babies have normal chromosomes, genetic testing may be done to check for other syndromes or chromosomal problems. This can guide counseling about recurrence risk and associated conditions.
Electrodiagnostic and functional tests
16. Urodynamic studies
Urodynamic tests use small catheters and sensors to measure bladder pressure, capacity, and flow. For children with cloacal exstrophy, these studies show how well the reconstructed bladder stores and releases urine, and guide further surgery or catheterization plans.
17. Nerve conduction and electromyography (EMG)
In selected patients, tests of nerve and muscle function in the legs and pelvic floor may be done. They help understand how spinal defects have affected movement and sphincter control.
18. Anorectal manometry (pressure study)
This test measures the pressure and reflexes in the anal canal and rectum. In children who have had pull-through surgery, it helps assess how well the bowel and sphincter muscles are working for continence.
Imaging tests
19. Prenatal ultrasound
A detailed prenatal ultrasound can sometimes diagnose cloacal exstrophy before birth. Typical signs are a large lower abdominal wall defect, no visible fetal bladder, an omphalocele, and spinal anomalies. Finding these signs early allows planning delivery in a specialist center.
20. Fetal MRI (magnetic resonance imaging)
Fetal MRI gives more detailed pictures than ultrasound. It can show the split bladder, protruding bowel, omphalocele, and spine in great detail, helping confirm the diagnosis and plan care before and after birth.
21. Postnatal abdominal ultrasound
After birth, ultrasound of the abdomen and kidneys helps assess kidney size, drainage, and other organs inside the belly. It is non-invasive and can be repeated often to monitor changes over time.
22. X-rays of spine and pelvis
Plain X-rays show the shape of the spine, pelvis, and hips. They help confirm spinal defects, pelvic bone separation, and limb alignment, which are important for walking and for pelvic reconstruction.
23. Contrast studies of bowel (contrast enema)
A contrast enema uses dye inside the bowel to outline its shape on X-ray. In cloacal exstrophy, it shows how the colon and rectum are formed, where they end, and how they connect to stomas, which guides future bowel surgeries.
24. Voiding cystourethrogram (VCUG)
In this test, dye is put into the bladder and X-rays are taken while the bladder fills and empties. For reconstructed bladders and urethras, VCUG shows reflux of urine toward the kidneys and checks for leaks or narrowings.
25. MRI of spine and pelvis (postnatal)
MRI after birth gives detailed images of the spinal cord, nerves, pelvis, and soft tissues without radiation. It helps define spinal defects, pelvic floor muscles, and internal reproductive anatomy to plan later reconstructive surgeries.
26. CT or 3D imaging (selected cases)
In some older children or complex re-operations, CT scans or 3D imaging may be used to see bone structures and organ positions more clearly. Because of radiation, these tests are used carefully and only when needed.
Non-pharmacological (non-drug) treatments and therapies
These are usually the most important parts of long-term care for cloacal exstrophy.
1. Multidisciplinary team care
Children with cloacal exstrophy should be followed in a specialist centre by a team including pediatric surgeons, urologists, nephrologists, gastroenterologists, orthopedic surgeons, nurses, psychologists, nutritionists and social workers. The purpose is to coordinate complex decisions about bowel, bladder, bones, growth and mental health so the child gets a single, consistent plan over many years.
2. Family education and counselling
Parents need simple, repeated teaching about stoma care, catheterisation, wound care, infection signs, diet and follow-up schedules. Good counselling reduces fear, improves home care, and helps families make informed decisions about major surgeries and, later, gender-related issues.
3. Nutritional support and growth monitoring
Many children with cloacal exstrophy have poor growth because of complex surgeries, short bowel, recurrent infections and high energy needs. Dietitians design high-calorie, high-protein feeding plans, sometimes including special formulas, tube feeding, or parenteral nutrition to support catch-up growth and protect bone health.
4. Bowel management programmes
Because the anus is absent and the hindgut may be short, children often need stomas or pulled-through bowel with enemas, laxatives or bowel washouts. Bowel management programmes aim to achieve predictable emptying and social continence, reduce accidents, and protect the skin around the stoma or anus.
5. Urinary management and catheterisation training
Many patients cannot empty their bladder normally because of abnormal anatomy and spinal issues, so they use clean intermittent catheterisation (CIC) through the urethra or a catheterisable channel. Teaching parents and older children to do CIC carefully reduces urinary retention, urinary tract infections (UTIs) and kidney damage.
6. Specialist stoma and wound nursing
Ostomy nurses teach how to fit pouches, protect the skin, manage leaks and recognise warning signs such as colour change, prolapse or retraction. Good stoma care is essential to avoid pain, bleeding, infections and repeated hospital visits, especially in infants.
7. Pelvic floor physiotherapy and continence training
As children grow, physiotherapists may use pelvic floor exercises, biofeedback and bladder training strategies to improve continence when the anatomy allows. Even if full dryness is not possible, these therapies can improve control, confidence and quality of life.
8. Orthopedic and spinal rehabilitation
Cloacal exstrophy often comes with spinal defects, pelvic diastasis and limb abnormalities. Orthopedic care with braces, physiotherapy and sometimes surgery helps with walking, posture and pain control, and reduces long-term back and hip problems.
9. Psychological and psychosocial support
Children and adolescents may struggle with body image, incontinence, scars, sexual identity and fear of repeated operations. Psychologists and social workers provide counselling, coping skills and support groups for patients and families, which improves mental health and social adjustment.
10. School and developmental support
Regular school attendance can be affected by surgeries, hospital stays and continence issues. Working with teachers to allow bathroom breaks, extra time, and privacy, plus developmental assessments and special education services if needed, supports learning and self-esteem.
11. Transition planning to adult care
As patients grow up, care needs to move from paediatric to adult services. Planned transition visits help adolescents understand their condition, surgeries, fertility options, sexual health, and self-management skills so they can safely manage their health as adults.
12. Support around sexuality, fertility and pregnancy
Adults with repaired cloacal exstrophy may need counselling on sexual function, contraceptive choices and pregnancy risks. Careful obstetric planning, usually with caesarean section, is needed if pregnancy is possible, to protect both mother and baby.
(You can expand this section into 20 items by splitting some points further for your website, but these are the core non-drug therapies backed by specialist-centre experience.)
Drug treatments (supportive medications – evidence and FDA references)
Again, there is no drug that “cures” cloacal exstrophy. Medicines support surgery by preventing infection, controlling pain, protecting kidneys and bowel, and improving continence. All doses must be adjusted by the child’s specialists, usually using weight-based paediatric dosing.
Below are 10 key medicine groups, with FDA label references and simple explanations.
1. Broad-spectrum peri-operative antibiotics (for example, ceftriaxone)
Ceftriaxone is a third-generation cephalosporin antibiotic used around major abdominal surgery to reduce the risk of wound and intra-abdominal infections, and for treatment of serious bacterial infections such as sepsis or complicated UTIs. It works by blocking bacterial cell-wall synthesis and is given IV or IM. Main side effects include allergic reactions, diarrhoea, liver enzyme changes and, rarely, gallbladder sludge.
2. Post-operative and chronic pain control – paracetamol (acetaminophen)
Acetaminophen is often the first-line medicine for pain and fever after surgery, because it is safe for kidneys and gut when used correctly. It works mainly in the central nervous system to reduce pain signals and fever. FDA labels clearly state weight-based dosing limits and warn about liver toxicity with overdose or combining many acetaminophen products.
3. Non-steroidal anti-inflammatory drugs (NSAIDs) – for example, ibuprofen
Ibuprofen suspension may be used short-term for inflammatory pain and fever when kidney function is good. It blocks cyclo-oxygenase (COX) enzymes, reducing prostaglandin production and therefore inflammation and pain. Side effects include stomach upset, bleeding risk and kidney strain, so specialists are cautious in children with dehydration, kidney problems or complex abdominal surgery.
4. Strong analgesics (opioids – for example, morphine, combination IV products)
After big reconstructions, short-term opioids may be needed for severe pain, sometimes in combination with acetaminophen and ibuprofen in carefully controlled IV products to reduce opioid dose requirements. These drugs act on opioid receptors in the brain and spinal cord to block pain signals, but can cause sleepiness, constipation, nausea and breathing depression, so they are usually used in hospital with close monitoring.
5. Anticholinergic bladder medicines – oxybutynin and related agents
In many patients, the reconstructed bladder is small and irritable, so antimuscarinic medicines such as oxybutynin are used to relax bladder smooth muscle, increase storage capacity and reduce leakage or bladder spasms. FDA labels describe them as antispasmodic, anticholinergic agents with side effects like dry mouth, constipation, blurred vision and sometimes confusion.
6. Prophylactic antibiotics for recurrent urinary tract infections
Because of abnormal urinary anatomy, catheterisation and sometimes reflux, many children are at high risk of recurrent UTIs. Low-dose prophylactic antibiotics (for example, trimethoprim-sulfamethoxazole or nitrofurantoin) may be used to reduce infection frequency, based on paediatric urology guidelines and local resistance patterns. Long-term prophylaxis must be reviewed often to avoid resistance and side effects.
7. Medicines for constipation and bowel management (for example, polyethylene glycol)
Where there is preserved colon or a pull-through procedure, osmotic laxatives such as polyethylene glycol may be used to keep stools soft and prevent obstruction, together with enemas in some protocols. These medicines draw water into the bowel lumen and are usually well tolerated but can cause loose stools, bloating or electrolyte imbalance if over-used.
8. Medicines for diarrhoea and high-output stomas (for example, loperamide)
Some children with short bowel or ileostomies lose large volumes of fluid and salts. Anti-motility agents such as loperamide can reduce stool volume by slowing intestinal transit, but they must be used carefully in children and only under specialist guidance, because they can mask serious bowel problems or cause toxic megacolon.
9. Acid-suppressive therapy (proton pump inhibitors / H2 blockers)
Proton pump inhibitors (PPIs) and H2 receptor antagonists may be used to treat stress ulcers, reflux or gastric irritation from chronic illness, pain medicines or tube feeding. By lowering stomach acid, they reduce pain and bleeding risk but may increase infection risk if used long-term, so doctors aim for the lowest effective dose and duration.
10. Supplements for bone and general health (for example, vitamin D and calcium)
Children with cloacal exstrophy, especially those with intestinal failure or chronic steroid use, are at risk of low bone mineral density. Vitamin D and calcium supplements support bone formation and reduce fracture risk, guided by blood tests and bone density scans. One study reported bone health concerns in repaired cloacal exstrophy patients, supporting careful monitoring and supplementation.
Important: all drug choices, combinations and doses must be set by a paediatric specialist. Do not start, stop or change medicines without your child’s doctor.
Dietary molecular supplements
Dietary and micronutrient support is crucial, especially in patients with short bowel, poor appetite or high stoma losses. These are general examples, not a prescription.
1. High-energy, high-protein formulas or oral nutritional supplements
Special paediatric formulas with extra calories and protein help children who cannot meet needs through normal food because of frequent surgeries or malabsorption. The function is to support growth, wound healing and immune function by providing concentrated nutrition in small volumes.
2. Medium-chain triglyceride (MCT)-rich feeds
MCTs are fats that are absorbed more easily than normal long-chain fats. In children with short bowel or fat malabsorption, MCT-enriched feeds can improve energy intake and reduce steatorrhoea, helping weight gain without overloading the gut.
3. Oral rehydration solutions (ORS)
ORS provide the right balance of water, glucose and electrolytes (sodium, potassium) to replace losses from high-output stomas or diarrhoea. Correct rehydration protects kidney function and maintains blood pressure better than plain water alone.
4. Multivitamin and mineral preparations
Combined supplements help cover gaps in intake of vitamins A, B-complex, C, D, E and trace elements such as zinc, selenium and copper, which are important for immune function, wound healing and growth in children with chronic illness and restricted diets.
5. Iron supplements (when iron-deficiency anaemia is present)
If blood tests show low haemoglobin and iron deficiency, iron supplements are used to rebuild iron stores and improve energy level and growth. They should only be given when deficiency is proven, because excess iron can cause stomach upset and, rarely, overload.
6. Vitamin D plus calcium
As noted above, these supplements support bone mineralisation in children with reduced mobility, reduced sunlight exposure, or malabsorption. They are usually dosed according to age, weight and blood levels to avoid deficiency or excess.
7. Zinc supplementation
Zinc is lost in high-output diarrhoea and is essential for immunity and wound healing. Short-term zinc supplements during periods of heavy losses can reduce the duration of diarrhoea and support skin health around stomas.
8. Probiotics (in selected cases)
Certain probiotic strains may help maintain a healthier gut microbiome, reduce some types of diarrhoea and support immune function, although evidence in cloacal exstrophy itself is limited and use is usually individualised. Immunocompromised patients need careful risk assessment before using live bacteria products.
9. Essential fatty acid supplements (omega-3/omega-6)
When children receive long-term parenteral nutrition or fat-restricted diets, essential fatty acid supplements may be needed to prevent deficiency, support skin integrity and reduce inflammation. These are usually given only under specialist nutrition team guidance.
10. Arginine / glutamine-enriched formulas (in intestinal failure programmes)
Some intestinal rehabilitation centres use formulas enriched with amino acids such as arginine or glutamine to support gut mucosal healing and immune function, especially in short bowel syndrome. Evidence is mixed, and these products are used as part of comprehensive nutrition plans, not alone.
Immunity booster and regenerative / stem-cell drugs
For cloacal exstrophy there are currently no specific approved “stem cell drugs” or regenerative medicines that can repair the malformation itself. Standard care relies on staged surgery, good nutrition, infection prevention, and routine childhood vaccines.
Some medicines indirectly support immunity or tissue health (for example, vaccines, antibiotics, vitamin D, nutritional support), but they are not magic immune boosters and must be used only under specialist advice. Experimental regenerative or stem-cell treatments are being researched for some bowel and kidney diseases but are not standard or routine for cloacal exstrophy.
Because of safety and ethical rules, it would be misleading and unsafe to list “stem-cell drugs” as treatments for cloacal exstrophy at this time.
Main surgeries
Surgery is the central treatment for cloacal exstrophy, usually done in stages.
1. Initial neonatal stabilisation and exstrophy closure
Soon after birth, surgeons protect exposed intestines and bladder, close the omphalocele if possible, bring bowel ends out as stomas, and approximate the bladder halves. The goal is to cover exposed organs, reduce fluid and heat loss, and prevent infection while planning later reconstruction.
2. Hindgut preservation and colostomy creation
Preserving as much colon as possible and creating a colostomy helps absorb water and nutrients and allows safer stool diversion in early life. Later, the hindgut may be used in pull-through operations or continence procedures to improve bowel function.
3. Bladder and urinary tract reconstruction
In later childhood, reconstructive surgery aims to bring bladder halves together, possibly augment the bladder with intestine, and create continence mechanisms (sling procedures, bladder neck reconstructions, catheterisable channels) tailored to each patient so they can achieve social continence and protect kidneys.
4. Genital reconstruction
Surgery may be needed to reconstruct external genitalia and internal reproductive structures, depending on the child’s anatomy and gender identity. The goals are to improve appearance, function and long-term sexual and reproductive health, with careful psychological support and shared decision-making.
5. Orthopedic and pelvic surgery
Because the pelvic bones are widely separated (pelvic diastasis), pelvic osteotomies and other orthopedic procedures are often performed to bring the pelvis together, support abdominal wall closure, improve walking mechanics and reduce back and hip pain later in life.
Prevention (what can realistically be prevented)
Cloacal exstrophy itself cannot currently be prevented; it arises very early in fetal development, and no specific maternal behaviour has been proven to cause it. However, many complications can be prevented or reduced.
-
Prevent dehydration and kidney damage by following stoma and ORS plans and checking urine output.
-
Prevent UTIs with proper catheter technique, regular emptying, prophylactic antibiotics when prescribed, and prompt treatment of fever.
-
Prevent skin breakdown around stomas and catheters using correct appliances, barrier creams and early treatment of rashes.
-
Prevent growth failure through early nutrition support, regular weight/height checks and timely adjustments.
-
Prevent bone problems with monitored vitamin D and calcium, physical activity as possible and bone density checks.
-
Prevent social isolation by arranging school support, peer groups and psychological care.
-
Prevent medication complications by keeping an updated medicine list, using one pharmacy when possible and following specialist advice on dosing.
-
Prevent surgical-site problems with careful wound care, attending follow-up visits and reporting redness, swelling or discharge quickly.
-
Prevent psychological crises through regular mental-health check-ins, open family communication and access to counsellors who understand complex congenital conditions.
-
Prevent gaps in care during transition by planning early for the move to adult services with written summaries and joint clinics.
When to see a doctor urgently
Parents and patients should contact their specialist or seek emergency care if they notice:
-
Fever, vomiting, lethargy, or very little urine, which may suggest sepsis or kidney problems.
-
New or worsening abdominal pain, swollen belly or no stoma output, which may suggest obstruction or bowel problems.
-
Blood in urine or stool, or very foul-smelling urine, which may indicate infection or bleeding.
-
Red, dark, or pale stoma, severe leakage, or prolapse, which are signs of stoma complications.
-
Sudden change in continence, such as new leakage or inability to catheterise, which may show outlet obstruction or neurological change.
-
Poor weight gain, bone pain, or repeated fractures, which may show nutritional or bone disease.
-
Strong sadness, anxiety, withdrawal, or self-hate, especially around body image or gender, which needs early psychological support.
Regular planned follow-ups with the cloacal exstrophy team (usually several times a year in childhood, at least yearly later) are also essential even when the child seems “well”.
Diet: what to eat and what to avoid (general guidance)
Diet is always personalised, but some common principles are used in cloacal exstrophy, especially when there are stomas or short bowel.
Helpful to eat / drink (as advised by the nutrition team):
-
Small, frequent meals with high-calorie and high-protein foods (eggs, dairy if tolerated, lean meat, pulses) to support growth and healing.
-
Complex carbohydrates like rice, pasta, potatoes and oats for steady energy.
-
Oral rehydration solutions or electrolyte-containing drinks if there are high-output stomas or diarrhoea, as advised.
-
Fruits and vegetables adjusted for fibre tolerance; sometimes low-fibre choices are better after certain surgeries.
-
Foods rich in calcium and vitamin D (fortified milk, yoghurt, cheese, fortified cereals, oily fish where culturally appropriate) plus supplements when needed.
Often best to limit or avoid (depending on individual plan):
-
Very salty, processed foods and sugary drinks that can worsen fluid balance and weight problems.
-
Very fatty or fried foods if they cause diarrhoea or discomfort in short bowel.
-
High-fibre, coarse foods (raw cabbage, popcorn, nuts) soon after intestinal surgery, if they risk blockage.
-
Excess caffeine and energy drinks in adolescents, which may worsen dehydration and sleep problems.
-
Alcohol and smoking in adults, as they further damage general health, bones and healing.
A paediatric or adult dietitian familiar with complex congenital bowel and urinary conditions should always tailor the diet.
Frequently asked questions (FAQs)
1. Is cloacal exstrophy fatal?
With modern neonatal care and staged reconstruction in expert centres, survival into adulthood is now common, and many people live a normal life span, although they may need repeated surgeries and long-term follow-up.
2. Is it the parents’ fault?
Current science does not show that normal activities or usual medicines in pregnancy cause cloacal exstrophy. It appears to result from early embryologic errors, and parents should not blame themselves.
3. Can it be seen before birth?
Sometimes ultrasound or fetal MRI shows abdominal wall defects, spinal problems and urinary anomalies, but diagnosis can be difficult and is not always made before delivery.
4. Will my child be continent (dry)?
Continence outcomes vary widely and depend on anatomy, spinal function and surgical choices. Many patients can achieve social continence with reconstruction, catheterisable channels and bowel programmes, though some will always need pads or stomas.
5. Will my child be able to have sex and relationships?
With careful genital reconstruction, psychological support and honest communication, many adolescents and adults develop satisfying relationships and sexual lives, though they may face unique challenges with function and body image.
6. Can a woman with repaired cloacal exstrophy get pregnant?
Pregnancy is sometimes possible but is high-risk and requires close planning with obstetric, urology and surgical teams, usually with caesarean section.
7. Are there risks of kidney failure?
Yes. Because of abnormal urinary drainage, reflux, infections and high bladder pressures, kidneys are at risk and must be monitored with blood tests, urine tests and imaging; early management can greatly reduce damage.
8. How often are follow-up visits needed?
In early childhood, visits may be every 3–6 months; later, at least yearly lifelong. The exact schedule depends on kidney status, continence, growth and psychological needs.
9. Are there special vaccines or “immune boosters” for this condition?
Routine childhood vaccines are extremely important because serious infections are more dangerous in medically complex children. There are no special immune-booster drugs specifically for cloacal exstrophy.
10. Can my child play sports?
Many children with cloacal exstrophy can take part in physical activities after recovery from surgeries, adapted to their stamina, continence and any orthopedic limits. The care team can advise which sports are safest.
11. Will my child need a stoma forever?
Some patients keep permanent stomas, while others later have pull-through or reconstruction procedures to pass stool through the anus or a continence device. Decisions are individual and based on anatomy and family preference.
12. Is cloacal exstrophy genetic?
Most cases are isolated and not clearly inherited, although rare familial cases and associations with chromosomal or syndromic conditions exist. Genetic counselling may be offered, but the recurrence risk is generally low.
13. Are there new treatments being researched?
Research is ongoing into better reconstructive techniques, continence procedures, intestinal rehabilitation, and psychological outcomes, but no single new “cure” has appeared yet.
14. Can adults with cloacal exstrophy live independently and work?
Yes. Many adults with this condition work, study and have families, though they often need ongoing medical follow-up and practical adjustments for continence routines.
15. Where can families find expert centres and support?
National rare disease centres, paediatric urology units, and rare disease organisations (such as those similar to GARD and Orphanet) can direct families to experienced teams and support groups.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 31, 2025.
