Statements (43)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:BWS
|
| gptkbp:alsoKnownAs |
gptkb:Beckwith-Wiedemann_syndrome
|
| gptkbp:associatedWith |
gptkb:Wilms_tumor
gptkb:hepatoblastoma increased risk of childhood tumors |
| gptkbp:causedBy |
imprinting defects
genetic changes on chromosome 11p15.5 mutations in CDKN1C gene paternal uniparental disomy |
| gptkbp:characterizedBy |
ear creases or pits
hemihyperplasia macroglossia neonatal hypoglycemia omphalocele overgrowth visceromegaly |
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:field |
medical genetics
pediatrics |
| gptkbp:firstDescribed |
gptkb:Hans-Rudolf_Wiedemann
gptkb:J._Bruce_Beckwith 1963 |
| https://www.w3.org/2000/01/rdf-schema#label |
Wiedemann-Beckwith syndrome
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:managedBy |
tumor surveillance
monitoring blood glucose surgical correction of omphalocele |
| gptkbp:MeSH_ID |
D001519
|
| gptkbp:OMIM |
130650
|
| gptkbp:prevalence |
1 in 13,700 births
|
| gptkbp:symptom |
abdominal wall defects
hemihyperplasia macroglossia neonatal hypoglycemia macrosomia organomegaly ear anomalies increased risk of embryonal tumors |
| gptkbp:bfsParent |
gptkb:Hans-Rudolf_Wiedemann
|
| gptkbp:bfsLayer |
7
|