Urofacial syndrome

Urofacial syndrome, or Ochoa syndrome, is an autosomal recessive congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: when attempting to smile, the patient seems to be crying or grimacing. It was first described by the Colombian physician Bernardo Ochoa in the early 1960s. The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, which is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated. Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination.

It may be associated with HPSE2.