Revesz 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.

Also known as DKCA5, dyskeratosis congenita with bilateral exudative retinopathy, dyskeratosis congenita, autosomal dominant 5, exudative retinopathy with bone marrow failure, retinopathy-anemia-central nervous system anomalies syndrome, Revesz syndrome, Revesz-DeBuse syndrome — per MONDO

Also identified as

• DOID 0070026 per MONDO
• MESH C538371 per MONDO
• NCIT C152064 per MONDO
• OMIM 268130 per MONDO
• Orphanet 3088 per MONDO
• SCTID 723512008 per MONDO
• UMLS C1327916 per MONDO

Affected Organs