/Revesz syndrome

Revesz syndrome

Rare Disease

MONDO:0009990

Also Known As

DKCA5Revesz syndromeRevesz-DeBuse syndromedyskeratosis congenita with bilateral exudative retinopathydyskeratosis congenita, autosomal dominant 5exudative retinopathy with bone marrow failureretinopathy-anemia-central nervous system anomalies syndrome

Definition

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.