What is Urofacial syndrome?
Urofacial syndrome (UFS), also referred to as Ochoa syndrome, was first reported in 1979 and is a rare genetic condition that is characterised by problems with passing urine and emptying the bladder, as well as characteristic facial expressions. Other possible features include problems with bowel function, such as constipation or loss of control of bowel movements, and an inability to fully close the eyelids during sleep. As is common with genetic conditions, each person is affected differently – even among affected members within the same family. Most people with UFS have been found to have a change in either the HPSE2 gene or LRIG2 gene (for some no change in either of these two genes has been found).
What features and symptoms do people with UFS have?
As is common with many genetic conditions, children and adults with UFS can have a range of symptoms and features. As more people are diagnosed, and information is shared, the range of symptoms and features, and the likelihood of a child or adult having these features, will become clearer. Most people are diagnosed in early childhood but those who are more severely affected may be diagnosed prenatally (before birth). Very mildly affected people may only be diagnosed following testing after the diagnosis of a relative.
Common features
- Problems with emptying the bladder (urinary tract dysfunction), which can lead to frequent urinary tract infections (UTIs), a build-up of urine in the kidneys (hydronephrosis) and kidney inflammation (pyelonephritis). If untreated, urine infections can lead to kidney damage.
- Urination problems can also lead to difficulty controlling the stream of urine (incontinence), and can result in bedwetting and/or daytime incontinence.
- Problems with bowel function, including constipation and, less often, loss of control of bowel movements (encopresis).
- Characteristic facial expressions (an inverted facial expression).
Other possible features include:
- Incomplete closing of the eyelids during sleep (nocturnal lagophthalmos).
- High blood pressure (hypertension), secondary to kidney damage.
Facial expression
Nearly all children and adults with UFS have a characteristic frown-like facial expression when they try to smile or laugh. Abnormal co-contraction of the corners of the mouth and eyes, which is most obvious during smiling or laughing and can be socially debilitating. The resting facial expression is unaffected. The “inverted facial expression” may be noticeable from the time that a baby begins to smile but may not raise any concerns. However, since this feature is strongly linked with urofacial syndrome, it is recommended that a specialist doctor examine the urinary tract as soon as possible. This could result in an earlier diagnosis of UFS and the features that are associated with this condition, such as urinary tract infections (UTIs). The necessary steps to prevent and/or treat the features of UFS can then be taken at an early stage leading to fewer complications.
Medical concerns
The following medical concerns have been found in people with UFS. Not all children and adults with UFS will be affected in the same way, even where more than one person in a family is affected.
Kidney and urinary tract anomalies
Problems with the urinary system (urinary tract dysfunction) that lead to problems with emptying the bladder are the most common reason for a person with UFS coming to the attention of doctors.
These problems can range from mild to severe and are often first observed in early childhood but features such as an enlarged bladder and/or kidney(s) and ureter(s) (the tubelike structures that carry urine from the kidneys to the bladder) are sometimes observed prenatally in an ultrasound scan.
Due to increased pressure in the bladder, incomplete emptying in children with UFS can lead to a build-up of urine leading to dilatation of the bladder (megacystis), ureters (hydroureter) and kidneys (hydronephrosis). Early signs may include difficulty controlling urination, which can lead to daytime or night-time wetting (incontinence). It can also lead to frequent urinary tract infections (UTIs), which need to be treated with antibiotics. These UTIs may cause no symptoms but can be more serious and be very debilitating and painful. Sometimes a UTI can spread to the bloodstream (urosepsis) and require urgent medical treatment, including with intravenous antibiotics. Rarely, repeated UTIs and the consequences of hydronephrosis can cause the kidneys to become damaged and inflamed, which in the most serious cases can lead to progressive kidney failure.
An early diagnosis and treatment can reduce or potentially prevent damage to the bladder and kidneys, which if left untreated can be severe and irreversible.
Constipation
Constipation, where bowel movements become less frequent and it becomes more difficult to pass a stool, affects about two thirds (2 in 3) of people with UFS. Roughly half of those with constipation will go on to develop a condition in which the failure to have bowel movements causes stools to accumulate in the body, in the colon or rectum. This can lead to the eventual bowel movement occurring involuntarily away from the toilet (encopresis) and may result in soiled underwear.
Eyes
Some people with UFS may not be able to close their eyes completely when they sleep (nocturnal lagophthalmos). This appears to be a relatively common feature of UFS and can lead to poor sleep and the eyes feeling dry upon waking. Further symptoms affecting some can include inflammation of the cornea (keratitis), a scratched cornea (corneal abrasion) and eye infections.
High blood pressure (hypertension)
Some people with UFS may have high blood pressure (hypertension) due to kidney damage. This can be treated with medication to prevent further damage to the kidneys.
Behavioural changes
Behavioural concerns are not a feature of UFS. Nevertheless, urinary symptoms like incontinence can have a major psychological impact on the child living with the condition and for their family members.
Unsurprisingly, children may therefore exhibit a range of emotions depending on their personality and the symptoms they experience, from anxiety and irritability to withdrawing into themselves or acting out. Useful tips and strategies to help the child and the wider family to adjust can be found at eric.org.uk.
How common is UFS?
It is difficult to say. Currently (2026), more than 150 people with UFS have been reported in the medical literature. Males and females are affected in equal numbers. As this is a condition due to changes inherited in a gene from each parent, UFS is more common in families where relatives have children. The condition is under-recognised, and we are working to increase awareness.