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Revesz syndrome
Disease definition
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.
ORPHA:3088
Classification level: Disorder- Synonym(s):
- Dyskeratosis congenita with bilateral exudative retinopathy
- Retinopathy-anemia-central nervous system anomalies syndrome
- Revesz-DeBuse syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Childhood
- ICD-10: Q82.8
- OMIM: 268130
- UMLS: C1327916
- MeSH: C538371
- GARD: 4695
- MedDRA: -
A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2014) Français (2014) Nederlands (2014)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2016) - Br J Haematol
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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