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<p>Enamel-Renal syndrome is a rare autosomal recessive condition. This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is characterised by dental abnormalities and nephrocalcinosis.
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Presentation
<p>The dental abnormalities include
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hypoplastic amelogenesis imperfecta
microdontia
intra-pulpal calcification
impacted posterior teeth with hyperplastic pericoronal follicles
gingival fibromatosis
ectopic calcifications on gingival and pericoronal tissues
Genetics
<p>This condition is caused by mutations in the FAM20A gene. This gene encodes a protein - the Golgi apparatus associated secretory pathway pseudokinase.
p><p>The gene is located on the long arm of chromosome 17 (17q24.2).
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Pathogensis
<p>The protein is an allosteric activator of the Golgi serine/threonine protein kinase and is involved in biomineralization of teeth.
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Diagnosis
<p>The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the FAM20A gene.
p><p>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.
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Differential diagnosis
Epidermolysis bullosa
Jalili syndrome
Raine syndrome
Tricho-dento-osseous syndrome
Treatment
<p>There is no specific treatment for this condition currently known and management of its various features is the norm.
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