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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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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.[1][2] 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

  1. Ochoa Syndrome. National Organization for Rare Disorders (NORD). 2002; Accessed 8/3/2010.
  2. Ochoa syndrome. Orphanet. October 2008; Accessed 8/3/2010.