| Entry |
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| Name |
Revesz syndrome;
Dyskeratosis congenita, autosomal dominant 5;
Exudative retinopathy with bone marrow failure |
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| Supergrp |
Dyskeratosis congenita [DS: H00507] |
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| Description |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis.
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| Category |
Congenital malformation
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A70 Aplastic anaemia
H00921 Revesz syndrome
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS |
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| Title |
Revesz syndrome. |
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| Journal |
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| Reference |
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| Authors |
Savage SA |
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| Title |
Dyskeratosis Congenita |
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| Journal |
GeneReviews (1993) |
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| Reference |
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| Authors |
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I |
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| Title |
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. |
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| Journal |
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| Reference |
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| Authors |
Revesz T, Fletcher S, al-Gazali LI, DeBuse P |
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| Title |
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? |
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| Journal |
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