Beckwith-Wiedemann syndrome

GPTKB entity

Statements (42)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:bfsLayer 5
gptkbp:bfsParent gptkb:Wilms_tumor
gptkbp:associated_with gptkb:Wilms_tumor
adrenal tumors
hemihyperplasia
macroglossia
neonatal hypoglycemia
omphalocele
gptkbp:caused_by overgrowth
gptkbp:current_use gptkb:Peters_anomaly
gptkb:Cohen_syndrome
gptkb:Silver-Russell_syndrome
gptkb:Sotos_syndrome
gptkb:Klinefelter_syndrome
gptkbp:descendant autosomal dominant
sporadic
gptkbp:first_described_by gptkb:1964
gptkbp:future_plans variable prognosis
monitoring for tumors
potential for normal development
gptkbp:genetic_diversity chromosomal abnormalities
imprinting defects
https://www.w3.org/2000/01/rdf-schema#label Beckwith-Wiedemann syndrome
gptkbp:is_popular_in 1 in 10,000 to 1 in 15,000 births
gptkbp:named_after gptkb:J._Bruce_Beckwith
Hans Wiedemann
gptkbp:research_focus epigenetics
cancer predisposition
genomic imprinting
gptkbp:risk_factor gptkb:physicist
family history
advanced paternal age
gptkbp:social_responsibility genetic testing
clinical evaluation
gptkbp:symptoms developmental delays
kidney abnormalities
facial asymmetry
ear abnormalities
large birth weight
gptkbp:treatment surgical intervention
hormonal therapy