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Beckwith-Wiedemann syndrome

rare

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.

Identifiers: MONDO:0007534 OMIM:130650 Orphanet:116
Part of: Familial hypertrophic cardiomyopathy Hereditary neoplastic syndrome Overgrowth syndrome
Also known as: BWS · exomphalos macroglossia gigantism syndrome · exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome · Wiedemann-Beckwith syndrome (WBS)

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Beckwith-Wiedemann syndrome due to 11p15 microdeletion	MONDO:0016477
Beckwith-Wiedemann syndrome due to 11p15 microduplication	MONDO:0019875
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	MONDO:0016478
Beckwith-Wiedemann syndrome due to CDKN1C mutation	MONDO:0016476
Beckwith-Wiedemann syndrome due to NSD1 mutation	MONDO:0016547
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	MONDO:0016475
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	MONDO:0019923
Franceschini Vardeu Guala syndrome	MONDO:0023182

Rare disease

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