MONDO_0009990 (Revesz syndrome) is a rare severe phenotypic variant of dyskeratosis congenita (DC) 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. Also known as: DKCA5, Revesz-DeBuse syndrome, dyskeratosis congenita with bilateral exudative retinopathy, dyskeratosis congenita, autosomal dominant 5, exudative retinopathy with bone marrow failure, retinopathy-anemia-central nervous system anomalies syndrome.