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Enamel-renal syndrome

Disease definition

A extremely rare, genetic malformation syndrome 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, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.

ORPHA:1031

Classification level: Disorder
  • Synonym(s):
    • Amelogenesis imperfecta-nephrocalcinosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: K00.5
  • OMIM: 204690
  • UMLS: C0403549  C2931783
  • MeSH: C538241
  • GARD: 646
  • MedDRA: -

Detailed information

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