Enamel-renal syndrome

Enamel-renal syndrome is a rare autosomal recessive condition, also known as idiopathic multicentric osteolysis with nephropathy, characterised by dental abnormalities and nephrocalcinosis, the deposition of calcium in the kidneys. The dental features include hypoplastic amelogenesis imperfecta, small teeth, calcification inside the tooth pulp, impacted back teeth, gingival fibromatosis and abnormal calcifications in the gum tissue. It is caused by mutations in the FAM20A gene on chromosome 17, whose protein is involved in tooth biomineralisation. It is usually diagnosed in childhood by the combination of nephrocalcinosis and dental findings, confirmed by sequencing FAM20A. No specific treatment is known and management addresses the individual features. It was first described in 1972.