Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
6
|
| gptkbp:bfsParent |
gptkb:Beckwith-Wiedemann_syndrome
|
| gptkbp:associated_with |
social challenges
vision problems hearing loss behavioral issues educational challenges increased risk of diabetes increased risk of metabolic syndrome psychosocial issues hypotonia gastrointestinal issues long-term follow-up care facial dysmorphism emotional difficulties increased risk of obesity dental anomalies renal anomalies skin abnormalities increased risk of malignancies joint hypermobility genetic counseling recommendations increased risk of hypertension cardiac anomalies hypertonia asymmetry of the body family history of growth disorders immunological issues |
| gptkbp:caused_by |
imprinting defects
|
| gptkbp:descendant |
autosomal dominant
sporadic |
| gptkbp:first_described_by |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Silver-Russell syndrome
|
| gptkbp:is_a_basis_for |
chromosome 7 abnormalities
chromosome 11 abnormalities |
| gptkbp:is_characterized_by |
growth retardation
|
| gptkbp:is_popular_in |
1 in 100,000 to 1 in 300,000 births
|
| gptkbp:manager |
regular monitoring
early intervention multidisciplinary care |
| gptkbp:related_to |
gptkb:Beckwith-Wiedemann_syndrome
|
| gptkbp:research_focus |
epigenetics
genomic imprinting |
| gptkbp:social_responsibility |
genetic testing
clinical evaluation |
| gptkbp:symptoms |
gptkb:microcephaly
hypoglycemia short stature poor feeding delayed development |
| gptkbp:treatment |
nutritional support
growth hormone therapy |