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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

Is genetic testing available for Ochoa syndrome?

Our Answer

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

What is Ochoa syndrome?

Ochoa syndrome is a condition characterized by unusual facial expressions and urinary problems.[1] Affected individuals have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression; this may appear as early as an infant begins to smile. The urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infections, hydronephrosis, and eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus.[2][3][1] The syndrome can be caused by mutations in the HPSE2 gene and is inherited in a autosomal recessive manner.[2][3][4] Treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure.[3]
Last updated: 7/12/2012

What causes Ochoa syndrome?

Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene has been implicated in control of facial expression, urinary voiding and bladder smooth muscle function.[4] The gene provides instructions for making a protein called heparanase 2; however, the exact function of this protein is currently not well understood.[1]

Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.[1]
Last updated: 7/12/2012

How is Ochoa syndrome inherited?

Ochoa syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.[2][3] The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Last updated: 8/3/2010

Is genetic testing available for Ochoa syndrome?

While the gene responsible for Ochoa syndrome has recently been identified, genetic testing does not appear to be widely available at this time.
Last updated: 8/3/2010