Amelogenesis imperfecta type 1G

An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.

Also known as: AI1G, AIGFS, ERS, FAM20A amelogenesis imperfecta, amelogenesis imperfecta and gingival fibromatosis syndrome, amelogenesis imperfecta caused by mutation in FAM20A, amelogenesis imperfecta, type IG (enamel-renal syndrome), amelogenesis imperfecta-gingival hyperplasia syndrome

2 clinical trials for this condition and its sub-types.