Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome

Am J Med Genet A. 2023 Feb;191(2):559-563. doi: 10.1002/ajmg.a.63025. Epub 2022 Nov 2.


The Urofacial or Ochoa Syndrome is a very rare congenital disorder that includes vesical bladder dysfunction and a peculiar inverse facial expression, which brings patients to express a sad-crying face while they intend to laugh. Up-to-date treatments have addressed only the urological side of this disease. However, also the impaired facial mimicry has a strong impact on patients' quality of life. We treated a young patient with Botulinum toxin to address this impairment and obtained pleasing results, including a harmonic smile and a very satisfied patient. To the best of our knowledge, this is the first time that the use of Botulinum toxin is reported in literature to address the facial expression component of this disease.

Keywords: Botulinum toxin; Ochoa Syndrome; facial expression.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Botulinum Toxins*
  • Facial Expression*
  • Humans
  • Quality of Life
  • Syndrome


  • Botulinum Toxins

Supplementary concepts

  • Urofacial syndrome