Urofacial (ochoa) syndrome: A literature review

Abstract

The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying while smiling) associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is associated with autosomal recessive inheritance mutations in the HPSE2 gene, located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; however, in up to 16% of patients, no associated mutations have been found. Recent evidence suggests that these genes are critical to an adequate neurological development to the lower urinary tract and that the origin of the disease seems to be due to peripheral neuropathy. There is clinical variability among patients with UFS and not all present the classic two components, and it has even been genetically confirmed in patients with a prior diagnosis of Hinman Syndrome or other bladder dysfunctions. Also, the presence of nocturnal lagophthalmos in these patients was recently described. Early recognition and timely diagnosis are critical to preventing complications such as urinary tract infections or chronic kidney disease. Next, the history of Urofacial Syndrome, the advances in its pathophysiology, and its clinical characteristics is reviewed.

Keywords: Bladder dysfunction; HPSE2; Inverted facial expression; LRIG2; Urofacial syndrome.