Revesz Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant form of dyskeratosis congenita, caused by mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. It is a fatal disease associated with exudative retinopathy and bone marrow failure.

**Synonyms:** - DKCA5 - Dyskeratosis Congenita, Autosomal Dominant, 5 - Exudative Retinopathy with Bone Marrow Failure