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Genetic and Rare Diseases Information Center (GARD)

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Ochoa syndrome

Other Names for this Disease
  • Hydronephrosis with peculiar facial expression
  • Inverted smile and occult neuropathic bladder
  • Partial facial palsy with urinary abnormalities
  • UFS
  • Urofacial Ochoa's syndrome
More Names
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Your Question

I have a problem. My hospital doesn't know a lot about Ochoa syndrome. I would like to know more if there are possibilities to live with it. I really can't handle it anymore. I'm 20 years old and I'm living since my birth with it. Please let me know.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Ochoa syndrome be treated?

Treatment for Ochoa syndrome focuses on the specific symptoms that are present in each individual. Management may require the coordinated efforts of a team of specialists, which may include pediatricians, urologists, nephrologists, surgeons, dietitians, and/or other health care professionals.[1]

Early diagnosis and treatment are necessary to prevent upper urinary tract deterioration and renal failure.[2] In many cases, therapy for urinary tract infections includes antibiotics for the treatment and prevention of bacterial infections and pain relievers.[1] Treatment may also involve bladder re-education, anticholinergic therapy and alpha-blockers.[2] In some cases, surgery may be needed to correct urinary tract obstruction and reconstruct certain portions of the urinary tract.[1] Intermittent catheterization may also be needed.[2]

In affected children who experience chronic renal failure, dialysis (hemodialysis and/or peritoneal dialysis) may be necessary. Kidney transplantation may be considered for individuals with severe renal failure.[1]
Last updated: 7/16/2012