/Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome

Rare Disease

MONDO:0007534

Also Known As

BWSBeckwith-Wiedemann syndromeWiedemann-Beckwith syndromeexomphalos-macroglossia-gigantism syndromeBeckwith-Wiedemann syndrome chromosome regionEMG syndromeWiedemann-Beckwith syndrome (WBS)exomphalos macroglossia gigantism syndrome

Definition

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

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Associated Genes

KCNQ1OT1 ↗CDKN1C ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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Beckwith-Wiedemann syndrome

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases