Urofacial Syndrome

What is urofacial syndrome?

Urofacial syndrome is a rare, inherited condition that affects two seemingly unrelated parts of the body at the same time: the bladder and the muscles of the face. It is also called Ochoa syndrome, after the Colombian doctor who first described it. Children with urofacial syndrome have trouble emptying their bladder normally, and they have an unusual facial expression: when they try to smile or laugh, their face looks as though they are crying or grimacing. This is often described as an inverted smile.

The bladder problem in urofacial syndrome is sometimes called a non-neurogenic neurogenic bladder. This means the bladder behaves as if the nerves controlling it were damaged, even though standard tests of the brain and spinal cord appear normal. The bladder muscle and the ring of muscle that holds urine in (the sphincter) do not work together in a coordinated way, so urine is held back or leaks at the wrong times.

Urofacial syndrome is present from birth, although the bladder symptoms may not be recognized until a child is a toddler or older. It affects boys and girls, and it has been reported in families from many parts of the world. Because it is very rare, most family doctors will never have seen a case, which is one reason the diagnosis is sometimes delayed.

The condition matters because the bladder problem, if it is not managed, can lead to repeated urinary infections and, over time, damage to the kidneys. With early recognition and consistent care, many of these complications can be reduced. In hospital settings such as Acibadem, the urinary and kidney aspects of the condition are typically managed jointly by pediatric urology and the Nephrology Department.

Urofacial syndrome symptoms

Urofacial syndrome symptoms fall into two groups: those affecting the face and those affecting the urinary system. Not every child has every feature, and the severity varies from person to person, even within the same family.

• Inverted facial expression: the face appears to cry or grimace when the child smiles, laughs, or is happy.
• Daytime urinary incontinence: leaking or wetting during the day, often beyond the age when toilet training is usually complete.
• Bed-wetting (nocturnal enuresis): wetting during sleep.
• Incomplete bladder emptying: the bladder does not empty fully, leaving urine behind.
• Straining or interrupted urine stream: the child may push hard to urinate or produce urine in a stop-start pattern.
• Recurrent urinary tract infections (UTIs): infections of the bladder or kidneys that keep coming back, sometimes with fever.
• Constipation and stool soiling: the bowel is often affected as well, leading to hard stools or leaking of stool.
• Vesicoureteral reflux: urine flows backward from the bladder toward the kidneys; this is usually found on tests rather than felt as a symptom.
• Hydronephrosis: swelling of the kidneys caused by trapped urine, again usually detected by imaging.

The facial feature is typically noticeable in infancy or early childhood, and in many cases it is the clue that prompts doctors to look more closely at the bladder. The facial expression itself does not cause pain or affect feeding, speech, or vision, although a small number of children have been reported to sleep with their eyes not fully closed.

How symptoms appear can change with age. In younger children, wetting, straining, and frequent infections are the most common concerns. In older children and adults who were not diagnosed or treated early, the emphasis often shifts to the consequences of long-standing bladder pressure, such as thickening of the bladder wall, kidney scarring, high blood pressure, or reduced kidney function. When kidney function declines, symptoms can include tiredness, poor growth in children, loss of appetite, and swelling of the legs or face.

Causes and risk factors

Urofacial syndrome causes are genetic. The condition is inherited in an autosomal recessive pattern. This means a child develops the syndrome only if they inherit a changed (mutated) copy of the responsible gene from both parents. Parents who each carry one changed copy usually have no symptoms themselves and often do not know they are carriers.

Two genes have been linked to the condition so far:

• HPSE2, which provides instructions for a protein called heparanase 2. Changes in this gene are the most commonly identified cause.
• LRIG2, a gene involved in signaling between cells, including in developing nerves.

Researchers believe that both genes play a role in the way nerves grow into and control the bladder and the facial muscles during development before birth. When these proteins do not work properly, the fine coordination between the bladder muscle and the sphincter is disrupted, and the muscles that shape a smile pull in an unusual direction. In some families with the typical features, no change in either gene is found, which suggests that other genes may also be involved.

Urofacial syndrome is not caused by anything a parent did or did not do during pregnancy, and it is not contagious. The main risk factors relate to family history:

• Having a brother or sister with urofacial syndrome.
• Parents who are both known carriers of a change in HPSE2 or LRIG2.
• Parents who are related by blood (consanguinity), which increases the chance that both carry the same rare gene change.
• Belonging to a family or community in which the condition has been reported before.

Because the condition is so uncommon, most children with bladder problems or an unusual smile do not have urofacial syndrome. The combination of the two features together, especially with recurrent infections, is what raises suspicion.

Urofacial syndrome diagnosis

There is no single test that confirms urofacial syndrome on its own. Doctors usually make the diagnosis by combining a careful clinical examination with bladder tests, imaging, and, where available, genetic testing. The aim is both to confirm the condition and to rule out other causes of a poorly functioning bladder, such as spina bifida or a spinal cord problem.

• Clinical examination: the doctor observes the child’s facial expression when smiling or laughing and asks detailed questions about wetting, urinary infections, and bowel habits.
• Urinalysis and urine culture: laboratory tests of a urine sample to check for infection, blood, or protein.
• Blood tests: to measure kidney function, for example creatinine and electrolytes.
• Kidney and bladder ultrasound: a painless scan that shows the size of the kidneys, any swelling from trapped urine, bladder wall thickness, and how much urine remains after voiding.
• Voiding cystourethrogram (VCUG): an X-ray study in which a contrast liquid is placed in the bladder to see whether urine flows backward toward the kidneys and how the bladder outlet opens.
• Urodynamic studies: tests that measure bladder pressure, capacity, and how the bladder and sphincter behave during filling and emptying. These often show the typical pattern of the sphincter tightening when it should relax.
• Spinal imaging (MRI or ultrasound): to make sure there is no hidden nerve or spinal cord abnormality that could explain the bladder problem.
• Genetic testing: a blood or saliva sample is analyzed for changes in HPSE2 and LRIG2. A positive result confirms the diagnosis; a negative result does not completely exclude it.

Genetic testing can also be offered to parents and siblings to clarify who carries the gene change. Genetic counseling helps families understand what the results mean for future pregnancies and for other relatives.

Urofacial syndrome treatment options

Urofacial syndrome treatment focuses on protecting the kidneys, preventing infections, and helping the child gain control over urination and bowel movements. The facial expression does not usually require treatment. Care is generally lifelong and is adjusted as the child grows. Your child’s doctor may recommend one or more of the following approaches.

Bladder emptying and monitoring

The most important goal is to keep the bladder emptying regularly and at low pressure. Clean intermittent catheterization (CIC) is a common part of care. A thin, soft tube is passed into the bladder several times a day to drain urine completely; parents are taught to do this, and older children often learn to do it themselves. Timed voiding schedules, relaxed posture on the toilet, and avoiding holding urine for long periods may also be advised. Regular follow-up with ultrasound, urine tests, and blood tests allows doctors to watch kidney health over time.

Medication

Medicines cannot cure urofacial syndrome, but they can help manage its effects. Anticholinergic (bladder-relaxing) medicines may be used to reduce high pressure and involuntary squeezing of the bladder muscle. Low-dose preventive antibiotics are sometimes prescribed for children who have frequent infections or vesicoureteral reflux, and infections that do occur are treated promptly with a full antibiotic course. Medicines that relax the bladder outlet, or drugs to control high blood pressure if it develops, may be added depending on the individual situation.

Bowel management

Constipation makes bladder symptoms worse, so a bowel program is often part of the plan. This may include adequate fluids, a diet with enough fiber, stool softeners or laxatives when needed, and a regular toileting routine. Some children also benefit from behavioral or biofeedback training to learn how to relax the pelvic floor muscles.

Procedures and surgery

Surgery is reserved for children whose kidneys are at risk despite conservative measures. Options a specialist may discuss include:

• Vesicostomy: a temporary opening from the bladder to the skin of the lower abdomen that allows urine to drain freely in young children.
• Bladder augmentation: enlarging the bladder with a piece of intestine to increase capacity and lower pressure.
• Continent catheterizable channel (Mitrofanoff procedure): a small channel to the bladder that makes catheterization easier.
• Anti-reflux surgery: correction of vesicoureteral reflux when it is severe or causing repeated kidney infections.
• Botulinum toxin injections into the bladder muscle or sphincter, which are used in some centers to reduce overactivity.

Kidney care

If kidney function declines significantly, care from a nephrologist (a kidney specialist) becomes central. Treatment then includes managing blood pressure, diet, growth, and anemia, and, in advanced kidney failure, dialysis or kidney transplantation. Before a transplant, the bladder must be functioning safely, so bladder management and kidney care are closely linked.

Living with urofacial syndrome and outlook

Urofacial syndrome is a lifelong condition, but it is one that can often be managed successfully. The outlook depends largely on how early the bladder problem is recognized and how consistently the kidneys are protected. Children who begin regular bladder emptying and infection prevention early in life have a better chance of preserving kidney function than those diagnosed after years of high bladder pressure and repeated infections. In some people diagnosed late, the kidney damage that has already occurred cannot be reversed, which is why early diagnosis matters so much.

Day-to-day life usually involves a routine of catheterization, medications, and clinic visits. Many families find that this becomes a normal part of the day over time. School-age children may need a private, clean place at school to catheterize and access to the toilet when they need it. Teenagers often take over their own care, and the transition from pediatric to adult urology and nephrology services should be planned rather than left to chance.

The unusual facial expression can affect how a child feels about themselves, particularly in adolescence, and it may be misread by others as sadness or discomfort. Explaining the condition to teachers and friends, and offering psychological support when needed, can help. Genetic counseling is useful for parents planning further pregnancies and for affected individuals as they reach adulthood.

No two people follow exactly the same course, and doctors cannot promise a particular outcome. What is widely accepted is that attentive, ongoing care lowers the risk of the most serious complication, which is kidney failure.

Frequently asked questions

Is urofacial syndrome the same as Ochoa syndrome?

Yes. Ochoa syndrome and urofacial syndrome are two names for the same condition. The name Ochoa comes from the doctor who first described the combination of bladder dysfunction and the inverted facial expression, while urofacial syndrome describes the two body systems involved: the urinary system and the face.

What are the earliest urofacial syndrome symptoms parents might notice?

Parents often first notice that their baby’s face looks as if it is crying when the child is actually smiling or laughing. Urinary symptoms such as persistent wetting, straining to pass urine, or fevers caused by urinary tract infections may appear in the toddler or preschool years. Constipation is also common early on.

What causes urofacial syndrome?

Urofacial syndrome causes are genetic. Most identified cases are linked to changes in the HPSE2 gene, and some to the LRIG2 gene. A child must inherit a changed copy from each parent to develop the condition. It is not caused by infections, diet, or events during pregnancy, and parents are usually unaffected carriers.

How is urofacial syndrome diagnosis confirmed?

Doctors combine the characteristic facial finding with bladder tests such as ultrasound, a voiding cystourethrogram, and urodynamic studies, and they usually image the spine to rule out a nerve cause. Genetic testing for HPSE2 and LRIG2 changes can confirm the diagnosis in many, though not all, affected children.

Can urofacial syndrome treatment cure the condition?

There is currently no cure that corrects the underlying gene change. Urofacial syndrome treatment aims to keep the bladder emptying safely, prevent infections, manage constipation, and protect the kidneys. With consistent care, many children avoid serious kidney damage, but treatment is typically needed throughout life.

Does the inverted smile need to be treated?

Usually not. The facial expression does not cause pain and does not affect eating, speaking, or breathing. Treatment for the face is generally not recommended, although support may be helpful if the appearance affects a child’s confidence or social interactions.

Can adults have urofacial syndrome?

Yes. People with urofacial syndrome grow into adulthood with the condition. Adults who were diagnosed and treated as children continue with bladder management and kidney monitoring. Adults who were never diagnosed may be identified later when they develop kidney problems or when a relative is diagnosed and the family is tested.

When to see a doctor

Any child who has an unusual facial expression when smiling together with wetting, straining to urinate, or repeated urinary infections should be evaluated by a doctor, who may refer to a pediatric urologist or kidney specialist. For someone already diagnosed with urofacial syndrome, the following warning signs need prompt medical attention:

• Fever with back or side pain, chills, or vomiting, which may indicate a kidney infection.
• Cloudy, foul-smelling, or bloody urine.
• Inability to pass urine or to pass a catheter, or a sudden drop in the amount of urine produced.
• Severe abdominal pain or a swollen, tender lower abdomen.
• Swelling of the face, legs, or ankles, or unexplained weight gain over a few days.
• Unusual tiredness, poor appetite, headaches, or newly measured high blood pressure.
• A child who appears very unwell, drowsy, or difficult to wake.

Urinary infections in children with urofacial syndrome can spread to the kidneys quickly, so fever in a child known to have the condition should not be watched at home for long without medical advice.