Beckwith-Wiedemann syndrome

URI: https://gptkb.org/entity/Beckwith-Wiedemann_syndrome
GPTKB entity
Statements (35)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkbp:alsoKnownAs gptkb:BWS
gptkbp:associatedWith gptkb:Wilms_tumor
gptkb:hepatoblastoma
gptkb:rhabdomyosarcoma
adrenocortical carcinoma
gptkbp:causedBy abnormal regulation of imprinted genes on chromosome 11p15
gptkbp:characterizedBy hemihyperplasia
increased risk of childhood tumors
macroglossia
neonatal hypoglycemia
omphalocele
overgrowth
gptkbp:diagnosedBy genetic testing
clinical features
gptkbp:firstDescribed gptkb:Hans-Rudolf_Wiedemann
gptkb:J._Bruce_Beckwith
gptkbp:ICD-10_code Q87.3
gptkbp:inheritance autosomal dominant
sporadic
gptkbp:MeSH_ID D001519
gptkbp:OMIM 130650
gptkbp:prevalence 1 in 13,700 births
gptkbp:riskFactor gptkb:assisted_reproductive_technology
gptkbp:symptom abdominal wall defects
ear creases or pits
macroglossia
nephromegaly
visceromegaly
gptkbp:treatment supportive care
surgical intervention
tumor surveillance
gptkbp:bfsParent gptkb:chromosome_11p15.5_(HRAS)
gptkbp:bfsLayer 5
https://www.w3.org/2000/01/rdf-schema#label Beckwith-Wiedemann syndrome