Families

Urofacial syndrome (also called Ochoa syndrome) is a rare inherited condition. Affected individuals have two changes in the responsible gene one inherited from each parent.
Affected individuals have bladder problems resulting in incontinence and infection. This can lead to kidney problems and ultimately kidney failure. Some affected individuals experience constipation.
Affected individuals have an unusual facial expression when they try to smile.
The condition can affect people from all over the world, but is more common in families where there is marriage between close relatives.