Clinical and genetic characteristics for the Urofacial Syndrome (UFS)

The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and hydronephrosis without any underlying neurological lesion and previous urinary obstruction. Some patients are also noted with nocturnal lagophthalmos. Until 2010, HPSE2, the gene encodes Heparanse 2 on chromosome 10, was thought to be the only culprit gene for this syndrome. However, another criminal gene, LRIG2, which encodes leucine-rich repeats and immunoglobulin-like domains 2, was also come into the light in 2012. Studies for dissecting the biological functions of HPSE2 and LRIG2 in urinary abnormalities are ongoing. In this minireview, we will update the discovery of novel clinical manifestations relevant to this syndrome and discuss with focus for the impact of HPSE2 on voiding dysfunction.