Patients with Revesz syndrome have cerebral calcifications, and hypoplasia of the cerebellum in addition to mild signs of dyskeratosis congenita such as a reticulated skin pattern, nail dysplasia, and oral leukoplakia. Ataxia is a prominent sign but is not present in all patients. Bone marrow failure with pancytopenia and a high risk of malignancies, however, are serious problems. Aplastic anemia and neutropenia may present in early childhood while other signs may not appear until late childhood. Sparse hair, intrauterine growth retardation and low birth weight are also features.
Few patients with Revesz syndrome have been reported and the clinical features have not been fully delineated. It is important to note that there is a large amount of clinical variation among patients.