Synonyms: Dyskeratosis congenita with bilateral exudative retinopathy | Retinopathy-anemia-central nervous system anomalies syndrome | Revesz-DeBuse syndrome
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
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