Urofacial Syndrome

Overview

Urofacial syndrome, also known as Ochoa syndrome, is a rare genetic disorder characterized by a combination of urinary tract dysfunction and distinctive facial expressions. Individuals with this syndrome typically have difficulty urinating due to a functional obstruction, leading to bladder dysfunction, and they display a peculiar inverted or grimacing smile when attempting to smile. The condition was first described in detail by Dr. Bernardo Ochoa and is inherited in an autosomal recessive pattern. Early recognition is crucial to prevent kidney damage and other urinary complications.

Causes

Urofacial syndrome is caused by mutations in the HPSE2 or LRIG2 genes. These genes are involved in the development and function of the peripheral nervous system, including nerves that control bladder function. Mutations disrupt normal signaling between the brain and the lower urinary tract, resulting in a dysfunctional bladder. The condition is inherited in an autosomal recessive manner, meaning a child must inherit two copies of the defective gene (one from each parent) to be affected.

Symptoms

The hallmark symptoms of urofacial syndrome involve both the urinary tract and facial musculature. Common features include:

• Urinary symptoms:

  • Difficulty urinating or incomplete bladder emptying

  • Urinary retention

  • Urinary incontinence (especially at night)

  • Recurrent urinary tract infections (UTIs)

  • Vesicoureteral reflux (backflow of urine into the kidneys)

  • Hydronephrosis (swelling of the kidneys due to urine buildup)

• Facial features:

  • Inverted smile or grimace when trying to smile

  • Normal facial appearance at rest

Without proper management, the urinary issues can lead to progressive kidney damage and eventual renal failure.

Diagnosis

Diagnosis of urofacial syndrome is based on the presence of characteristic clinical features and confirmed through genetic testing. The diagnostic process may include:

• Detailed clinical history and physical examination

• Urodynamic studies – to evaluate bladder function and voiding abnormalities

• Ultrasound or imaging studies – to assess bladder structure, kidney condition, and presence of reflux

• Voiding cystourethrogram (VCUG) – to detect vesicoureteral reflux

• Genetic testing – to identify mutations in HPSE2 or LRIG2

The inverted smile, in combination with urinary symptoms and a positive family history, often raises clinical suspicion.

Treatment

There is no cure for urofacial syndrome, but treatment focuses on managing urinary symptoms and preventing complications. Interventions include:

• Clean intermittent catheterization (CIC) – to ensure complete bladder emptying

• Anticholinergic medications – to reduce bladder overactivity and improve storage function

• Prophylactic antibiotics – to prevent recurrent urinary tract infections

• Surgical procedures – such as bladder augmentation or ureteral reimplantation in severe cases

• Regular monitoring – with kidney function tests and imaging studies to detect complications early

Multidisciplinary care involving pediatric urologists, nephrologists, and genetic counselors is often required for optimal management.

Prognosis

The prognosis of urofacial syndrome depends on the severity of the urinary dysfunction and the timing of diagnosis and intervention. With early and appropriate treatment, many individuals can maintain normal kidney function and lead relatively healthy lives. However, if left untreated, the condition can lead to chronic kidney disease or end-stage renal failure. The facial feature associated with the syndrome typically has no functional impact but may have psychosocial implications as the child grows older.