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Genetics Home Reference: your guide to understanding genetic conditions
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Ochoa syndrome

Reviewed March 2012

What is Ochoa syndrome?

Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure.

Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention.

Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.

How common is Ochoa syndrome?

Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.

What genes are related to Ochoa syndrome?

Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood.

Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder.

Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.

Related Gene(s)

Changes in this gene are associated with Ochoa syndrome.

  • HPSE2

How do people inherit Ochoa syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 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.

Where can I find information about diagnosis or management of Ochoa syndrome?

These resources address the diagnosis or management of Ochoa syndrome and may include treatment providers.

  • Gene Review: Urofacial Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK154138)
  • Genetic Testing Registry: Ochoa syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0403555)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): Urodynamic Testing (http://kidney.niddk.nih.gov/KUDiseases/pubs/urodynamic/index.aspx)
  • Scripps Health: Self-Catheterization -- Female (http://www.scripps.org/articles/3954-self-catheterization-female)
  • Scripps Health: Self-Catheterization -- Male (http://www.scripps.org/articles/4190-self-catheterization-male)

You might also find information on the diagnosis or management of Ochoa syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/ochoa-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/ochoa-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Ochoa syndrome?

You may find the following resources about Ochoa syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Ochoa syndrome?

  • hydronephrosis-inverted smile
  • hydronephrosis with peculiar facial expression
  • inverted smile and occult neuropathic bladder
  • inverted smile-neurogenic bladder
  • partial facial palsy with urinary abnormalities
  • UFS
  • urofacial Ochoa's syndrome
  • urofacial syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Ochoa syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Ochoa syndrome?

anus ; autosomal ; autosomal recessive ; cell ; constipation ; gene ; incontinence ; inflammation ; inherited ; inversion ; kidney ; palsy ; protein ; recessive ; syndrome ; vesicoureteral reflux

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569-73. doi: 10.1016/j.jpurol.2011.02.034. Epub 2011 Mar 29. (http://www.ncbi.nlm.nih.gov/pubmed/21450525?dopt=Abstract)
  • Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S. Ochoa syndrome: a spectrum of urofacial syndrome. Eur J Pediatr. 2010 Apr;169(4):431-5. doi: 10.1007/s00431-009-1042-9. Epub 2009 Aug 11. (http://www.ncbi.nlm.nih.gov/pubmed/19669792?dopt=Abstract)
  • Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):963-9. Erratum in: Am J Hum Genet. 2010 Aug 13;87(2):309. (http://www.ncbi.nlm.nih.gov/pubmed/20560210?dopt=Abstract)
  • Derbent M, Melek E, Arman A, Uçkan S, Baskin E. Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? Ren Fail. 2009;31(7):589-92. (http://www.ncbi.nlm.nih.gov/pubmed/19839856?dopt=Abstract)
  • Garcia-Minaur S, Oliver F, Yanez JM, Soriano JR, Quinn F, Reardon W. Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol. 2001 Jul;10(3):165-70. (http://www.ncbi.nlm.nih.gov/pubmed/11446407?dopt=Abstract)
  • Ochoa B. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol. 2004 Jan;19(1):6-12. Epub 2003 Nov 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14648341?dopt=Abstract)
  • Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):957-62. Erratum in: Am J Hum Genet. 2010 Jul 9;87(1):161. Fisher, Richard B [added]. (http://www.ncbi.nlm.nih.gov/pubmed/20560209?dopt=Abstract)
  • Stamatiou K, Tyritzis S, Karakos C, Skolarikos A. Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? Urology. 2011 Oct;78(4):911-3. doi: 10.1016/j.urology.2010.12.061. Epub 2011 Apr 13. (http://www.ncbi.nlm.nih.gov/pubmed/21492912?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2012
Published: September 15, 2014