Clinical Characteristics for Families

People affected by urofacial syndrome usually present with urinary symptoms including incontinence and bed wetting. They are prone to recurrent urinary tract infections which require antibiotic treatment. Reflux of urine towards the kidneys can result in renal impairment.
Sometimes the diagnosis of urofacial syndrome can be made before birth on a scan if the bladder is enlarged.
Some affected individuals can experience severe constipation.
Some affected individuals grimace on attempts at smiling.