Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
6
|
| gptkbp:bfsParent |
gptkb:Beckwith-Wiedemann_syndrome
|
| gptkbp:associated_with |
vision problems
hearing loss intellectual disability hypoglycemia autism spectrum disorder scoliosis dental issues kidney abnormalities skin abnormalities increased risk of tumors cardiac anomalies |
| gptkbp:caused_by |
mutation in the NS D1 gene
|
| gptkbp:descendant |
autosomal dominant
|
| gptkbp:first_described_by |
gptkb:1964
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sotos syndrome
|
| gptkbp:is_characterized_by |
distinctive facial features
developmental delay excessive growth |
| gptkbp:is_popular_in |
1 in 14,000 to 1 in 20,000 births
|
| gptkbp:lifespan |
normal life expectancy
|
| gptkbp:manager |
regular monitoring
multidisciplinary approach individualized education plans supportive therapies |
| gptkbp:notable_event |
individuals with Sotos syndrome
|
| gptkbp:public_awareness |
increased through advocacy organizations
increased through social media campaigns increased through community support groups increased through medical conferences increased through research publications |
| gptkbp:related_to |
gptkb:Beckwith-Wiedemann_syndrome
Overgrowth syndromes |
| gptkbp:research_focus |
genetic testing
long-term outcomes clinical management |
| gptkbp:social_responsibility |
family history
clinical evaluation clinical features genetic testing results |
| gptkbp:symptoms |
seizures
macrocephaly behavioral issues long limbs hypotonia |
| gptkbp:treatment |
educational support
physical therapy therapies for developmental delays |