Urofacial (Ochoa) Syndrome

Urofacial syndrome (UFS), also known as Ochoa syndrome, is a rare genetic condition characterized by the co-occurrence of lower urinary tract dysfunction and a distinctive facial expression when crying or laughing. This autosomal recessive disorder is caused by mutations in the HPSE2 or LRIG2 genes.

Key Points

• Inheritance Pattern: Autosomal recessive
• Gene Mutations: HPSE2 (chromosome 10q23-q24) or LRIG2
• Age of Onset: Usually presents in early childhood
• Primary Features: Urinary dysfunction and inverted facial expression

Primary Clinical Manifestations

• Facial Features:
  • Characteristic grimacing when smiling or laughing
  • Inversion of facial expression - appears to be crying when laughing
  • Normal facial appearance at rest
• Urological Manifestations:
  • Neurogenic bladder dysfunction
  • Urinary incontinence
  • Recurrent urinary tract infections
  • Vesicoureteral reflux
  • Hydroureteronephrosis
• Associated Features:
  • Constipation
  • Encopresis
  • Growth delays
  • Chronic kidney disease (in severe cases)

Diagnostic Approach

• Clinical Assessment:
  • Detailed family history
  • Physical examination focusing on facial features
  • Neurological evaluation
• Urological Evaluation:
  • Urodynamic studies
  • Voiding cystourethrogram
  • Renal ultrasound
  • Assessment of post-void residual volumes
• Genetic Testing:
  • Molecular analysis of HPSE2 and LRIG2 genes
  • Family screening when mutation is identified

Treatment Strategy

• Urological Management:
  • Clean intermittent catheterization
  • Anticholinergic medications
  • Prophylactic antibiotics when indicated
  • Regular monitoring of kidney function
• Bowel Management:
  • Dietary modifications
  • Stool softeners when needed
  • Behavioral interventions
• Supportive Care:
  • Physical therapy
  • Psychological support
  • Family counseling

Long-term Outcomes

• Variable prognosis depending on:
  • Age at diagnosis
  • Severity of urological complications
  • Compliance with treatment
  • Development of kidney disease
• Complications if untreated:
  • Chronic kidney disease
  • Recurrent infections
  • Social and psychological challenges