Revesz syndrome

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Revesz syndrome

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: // Data version October 2023.

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Revesz syndrome?

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Advocacy Organizations

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

For a list of clinical trials in this disease area, please click here.