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Revesz syndrome

Disease definition

Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

ORPHA:3088

  • Synonym(s):
    • Dyskeratosis congenita with bilateral exudative retinopathy
    • Retinopathy-anemia-central nervous system anomalies syndrome
    • Revesz-DeBuse syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: -
  • OMIM: 268130
  • UMLS: C1327916
  • MeSH: -
  • GARD: 4695
  • MedDRA: -

Additional information

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