Revesz syndrome
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.
MONDO:0015780
dyskeratosis congenita
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
DKCA5
exact
Revesz syndrome
exact
Revesz-DeBuse syndrome
exact
dyskeratosis congenita with bilateral exudative retinopathy
exact
dyskeratosis congenita, autosomal dominant 5
exact
exudative retinopathy with bone marrow failure
exact
retinopathy-anemia-central nervous system anomalies syndrome
exact
SPAC19G12.13c