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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



What is Ochoa syndrome?

What causes Ochoa syndrome?

How is Ochoa syndrome inherited?

How might Ochoa syndrome be treated?


What is Ochoa syndrome?

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]
Last updated: 7/12/2012

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

Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.[1]
Last updated: 7/12/2012

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.[2][3] 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

How might Ochoa syndrome be treated?

Treatment for Ochoa syndrome focuses on the specific symptoms that are present in each individual. Management may require the coordinated efforts of a team of specialists, which may include pediatricians, urologists, nephrologists, surgeons, dietitians, and/or other health care professionals.[5]

Early diagnosis and treatment are necessary to prevent upper urinary tract deterioration and renal failure.[6] In many cases, therapy for urinary tract infections includes antibiotics for the treatment and prevention of bacterial infections and pain relievers.[5] Treatment may also involve bladder re-education, anticholinergic therapy and alpha-blockers.[6] In some cases, surgery may be needed to correct urinary tract obstruction and reconstruct certain portions of the urinary tract.[5] Intermittent catheterization may also be needed.[6]

In affected children who experience chronic renal failure, dialysis (hemodialysis and/or peritoneal dialysis) may be necessary. Kidney transplantation may be considered for individuals with severe renal failure.[5]
Last updated: 7/16/2012

References
  1. Ochoa syndrome. Genetics Home Reference. March 2012; http://ghr.nlm.nih.gov/condition/ochoa-syndrome. Accessed 7/12/2012.
  2. Ochoa Syndrome. National Organization for Rare Disorders (NORD). 2002; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ochoa%20Syndrome. Accessed 8/3/2010.
  3. Ochoa syndrome. Orphanet. October 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704. Accessed 8/3/2010.
  4. Daly SB, Urquhart JE, Hilton E, et al.. Am J Hum Genet. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20605127. Accessed 8/3/2010.
  5. Ochoa syndrome. NORD. May 21, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1086/viewAbstract. Accessed 7/12/2012.
  6. Alain Verloes. Ochoa syndrome. Orphanet. October 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704. Accessed 7/16/2012.