PDF: Enamel Renal Syndrome in Sub-Saharan Africa: Clinical Insights from a Rare Case Series



Enamel Renal Syndrome (ERS) is a rare genetic disorder characterized by hypoplastic amelogenesis imperfecta, delayed or failed tooth eruption, intrapulpal calcifications, gingival enlargement, and potential renal complications such as nephrocalcinosis.

This case series reports four unrelated patients from sub-Saharan Africa with genetically confirmed ERS through pathogenic variants of the FAM20A gene.


Each case presents the classic oral features of ERS with varying degrees of severity.

Notably, two patients displayed renal involvement: one with nephrocalcinosis and impaired renal function, and another with small kidneys but preserved function.

The remaining two patients showed no renal manifestations at the time of reporting.


The study emphasizes the critical role of dentists in the early recognition of ERS, as oral findings are often the first signs of the syndrome.

Early referral to nephrologists and genetic specialists is essential, particularly in resource-limited settings, to ensure comprehensive multidisciplinary care and long-term monitoring.

👉 We invite the international dental community to explore the full PDF article for detailed clinical data, diagnostic imaging, and management recommendations.


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