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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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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.[1] The gene provides instructions for making a protein called heparanase 2; however, the exact function of this protein is currently not well understood.[2]

Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.[2]
Last updated: 7/12/2012

  1. Daly SB, Urquhart JE, Hilton E, et al.. Am J Hum Genet. 2010; Accessed 8/3/2010.
  2. Ochoa syndrome. Genetics Home Reference. March 2012; Accessed 7/12/2012.