Ochoa and Gorlin described the urofacial syndrome. This consists of a characteristic facial appearance and bladder dysfunction. If the condition is unrecognized then the patient can develop renal failure.
Inheritance: autosomal recessive
Gene location: 10q23-q24
The characteristic finding is a facial “grimacing” or “crying” when smiling or laughing (inverted, with corners of the mouth straight or turning down).
Urogenital features involve a bladder sphincter dysfunction resulting in urinary retention and dysfunctional voiding (obstructive uropathy). Some authors say the dysfunction is neurogenic, others non-neurogenic and a few both.
Complications of the urogenital dysfunction:
(1) enuresis
(2) bladder distention with or without hydronephrosis
(3) vesicoureteral reflux
(4) urinary tract infection
(5) hypertension
(6) renal failure
Other findings:
(1) nocturnal lagophthalmos which is associated with risk of corneal or ocular injury leading to blindness
(2) constipation or encopresis
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