BASIC INFORMATION

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"Revesz syndrome"

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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.
Full title
Revesz syndrome
Short title
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Synonyms
Retinopathy-anemia-central nervous system anomalies syndrome Revesz-DeBuse syndrome Dyskeratosis congenita with bilateral exudative retinopathy
Orpha number
3088
Category
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Subcategory
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Name in a foreign language
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Prevalence
Inheritance
Autosomal dominant
Start period
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ICD 10
OMIM
268130
UMLS
C1327916
GARD
4695
MEDDRA

CONTENT INFORMATION

Textual description

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Etiology

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Forecast

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Differential diagnosis

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Treatment

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Diagnostic methods

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Antenatal diagnosis

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Epidemiology

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Genetic counseling

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Therapy

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Clinical research

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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version (XML data version).

ADDITIONAL INFORMATION

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