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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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Overview


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]


References

  1. Ochoa syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/ochoa-syndrome. Accessed July 12, 2012.
  2. Ochoa Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ochoa%20Syndrome. Accessed August 3, 2010.
  3. Ochoa syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704. Accessed August 3, 2010.
  4. Daly SB, Urquhart JE, Hilton E, et al.. Am J Hum Genet. 2010. http://www.ncbi.nlm.nih.gov/pubmed/20605127. Accessed August 3, 2010.
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General Information

  • Genetics Home Reference (GHR) contains information on Ochoa syndrome. Click on the link to go to GHR and review the information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ochoa syndrome. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ochoa syndrome. Click on the link to go to OMIM and review these resources.