Urofacial syndrome

Urofacial syndrome (UFS), also known as Ochoa syndrome, is a rare autosomal recessive disorder characterized by the combination of a severe lower urinary tract dysfunction and an abnormal facial expression. The condition was first described by Colombian physician Bernardo Ochoa in 1987. The hallmark facial feature is an inverted or grimacing expression when attempting to smile or laugh — the face appears as though the individual is crying or in distress when they are actually expressing happiness. This distinctive facial expression is caused by abnormal co-contraction of facial muscles. The urinary tract dysfunction in urofacial syndrome involves detrusor-sphincter dyssynergia, where the bladder muscle and the urethral sphincter contract simultaneously rather than in a coordinated fashion. This leads to incomplete bladder emptying, urinary incontinence, recurrent urinary tract infections, vesicoureteral reflux, and hydronephrosis. If left untreated, the progressive urinary obstruction can result in severe kidney damage and end-stage renal failure, which is the most serious complication of the condition. Constipation and fecal soiling may also occur due to similar dyscoordination affecting bowel function. Urofacial syndrome is caused by pathogenic variants in the HPSE2 gene (UFS1, on chromosome 10q24) or the LRIG2 gene (UFS2, on chromosome 1p13). These genes are involved in neural development and signaling pathways important for proper innervation of the bladder and facial muscles. Treatment is primarily supportive and focuses on preserving kidney function. Management includes clean intermittent catheterization to ensure complete bladder emptying, prophylactic antibiotics to prevent urinary tract infections, anticholinergic medications to reduce bladder overactivity, and in some cases surgical interventions such as vesicostomy or bladder augmentation. Early diagnosis and aggressive urological management are critical to preventing irreversible renal damage.

Common questions about Urofacial syndrome