Other Names for this Disease
- Hydronephrosis with peculiar facial expression
- Urofacial syndrome
- Inverted smile and occult neuropathic bladder
- Partial facial palsy with urinary abnormalities
- Urofacial Ochoa's syndrome
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 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. The syndrome can be caused by mutations in the HPSE2 gene and is inherited in a autosomal recessive manner. 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.Ochoa syndrome is a condition characterized by unusual facial expressions and urinary problems.
Last updated: 7/12/2012
- Ochoa syndrome. Genetics Home Reference. March 2012; http://ghr.nlm.nih.gov/condition/ochoa-syndrome. Accessed 7/12/2012.
- Ochoa Syndrome. National Organization for Rare Disorders (NORD). 2002; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ochoa%20Syndrome. Accessed 8/3/2010.
- Ochoa syndrome. Orphanet. October 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704. Accessed 8/3/2010.
- Daly SB, Urquhart JE, Hilton E, et al.. Am J Hum Genet. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20560210. Accessed 8/3/2010.
- Genetics Home Reference (GHR) contains information on Ochoa syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.