This is an extremely rare syndrome, so far having been described in only a single family having four affected patients. The condition is characterized by, small echogenic, nephrocalcinic kidneys, leading to distal renal tubular acidosis, hypercalcemia, hypercalciuria, normal anion gap metabolic acidosis, and proteinuria, and characteristic facial features including large bulbous nose, thick ala nasi, well defined philtrum, full lower lips, ear lobule pits, chubby cheeks, protruded tongues, and open mouths. Patients also show mental retardation and a short stature.