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Dyskeratosis congenita

Disease definition

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

ORPHA:1775

  • Synonym(s):
    • DC
    • DKC
    • Zinsser-Engman-Cole syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: Q82.8
  • OMIM: 127550  224230  305000  613987  613988  613989  613990  615190  616353
  • UMLS: C0265965
  • MeSH: D019871
  • GARD: 10905
  • MedDRA: 10062759

Detailed information

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