The urofacial syndrome, also known as the Ochoa syndrome, is a rare autosomal recessive disorder comprising a congenital obstructive uropathy and abnormal facial expression. Obstructive uropathy originates from impaired neural communication between the bladder and the spinal cord, resulting in incomplete emptying of the bladder. Neurogenic bladder causes involuntary discharge of urine, urinary tract infections, and abnormal accumulation of urine in the kidneys. When affected patients smile, their facial musculature turns upside down or ''inverts'' so that they appear to be grimacing or crying. Some severely affected patients become hypertensive and progress to end-stage renal disease; others become uremic. In addition to facial and urinary abnormalities, about two-thirds of the patients also have moderate to severe constipation.