It is also important to recognize that the management implications for a biological female with cystic kidneys because of a variant in OFD1, which is associated with the variably expressed oral-facial-digital syndrome (OFDS) type 1, are dramatically different than for a biological female with cystic kidneys because of a variant in PKD2. OFDS warrants additional referrals to specialists for evaluation of neurological, skeletal, and oral extrarenal features for affected individuals. This evidence concerns the gene PKD2 and orofaciodigital syndrome.