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Ochoa syndrome

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Description

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.

Frequency

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

Causes

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.

Inheritance

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.

Other Names for This Condition

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

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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]. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
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