Urofacial (Ochoa) syndrome is an inherited condition where an affected individual will have two altered copies of the responsible gene. Most affected individuals will have inherited an altered copy from each parent. Parents are clinically unaffected but are carriers for the condition and will have a 1 in 4 risk of having other affected children.
The changes in the LRIG2 gene that result in urofacial syndrome nearly always lead to a complete loss of the gene working.
LRIG2