The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the FAM20A gene. This condition is usually diagnosed in childhood but may not be recognised until early adulthood. The diagnosis is suspected on the combination of nephrocalcinosis and dental abnormalities. Differential diagnosis * Epidermolysis bullosa * Jalili<unk>  * Raine<unk>  * Tricho-dento-osseous<unk>
Enamel-renal syndrome
Branchio-oto-renal syndrome
Coffin–Lowry syndrome
Jones syndrome
Nelson's syndrome
Wellens' syndrome
Fowler's syndrome
Worster-Drought syndrome