Ochoa Syndrome

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Xu, R. Ochoa Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4635 (accessed on 29 September 2026).

Xu R. Ochoa Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4635. Accessed September 29, 2026.

Xu, Rita. "Ochoa Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4635 (accessed September 29, 2026).

Xu, R. (2020, December 24). Ochoa Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4635

Xu, Rita. "Ochoa Syndrome." Encyclopedia. Web. 24 December, 2020.

Ochoa Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ochoa-syndrome

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

genetic conditions

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 sequencingidentifies 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.
Aydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F, Tekgul S.Ochoa syndrome: a spectrum of urofacial syndrome. Eur J Pediatr. 2010Apr;169(4):431-5. doi: 10.1007/s00431-009-1042-9.
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. Mutationsin 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.
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.
Garcia-Minaur S, Oliver F, Yanez JM, Soriano JR, Quinn F, Reardon W. Three newEuropean cases of urofacial (Ochoa) syndrome. Clin Dysmorphol. 2001Jul;10(3):165-70.
Ochoa B. Can a congenital dysfunctional bladder be diagnosed from a smile? TheOchoa syndrome updated. Pediatr Nephrol. 2004 Jan;19(1):6-12.Review.
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 HumGenet. 2010 Jun 11;86(6):957-62. Erratum in: Am J Hum Genet. 2010 Jul9;87(1):161. Fisher, Richard B [added].
Stamatiou K, Tyritzis S, Karakos C, Skolarikos A. Urofacial syndrome: a subsetof neurogenic bladder dysfunction syndromes? Urology. 2011 Oct;78(4):911-3. doi: 10.1016/j.urology.2010.12.061.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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