ORPHA:3088

Revesz syndrome

Also called Dyskeratosis congenita with bilateral exudative retinopathy, Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse syndrome

Body system

Immunological diseases

Inheritance pattern

Autosomal dominant

Typical age of onset

Childhood, Infancy

Estimated prevalence

<1 / 1 000 000 (Europe)

Rarity class

<1 / 1 000 000

ORPHA:3088 is classified under "Immunological diseases" in the Orphanet nomenclature.