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Diseases

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
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Inheritance

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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

References
  1. Ochoa Syndrome. National Organization for Rare Disorders (NORD). 2002; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ochoa%20Syndrome. Accessed 8/3/2010.
  2. Ochoa syndrome. Orphanet. October 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704. Accessed 8/3/2010.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.