Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:Russell-Silver_dwarfism
gptkb:Silver-Russell_syndrome |
| gptkbp:causedBy |
genetic mutations
chromosome 11p15 hypomethylation chromosome 7 maternal uniparental disomy |
| gptkbp:characterizedBy |
short stature
clinodactyly feeding difficulties intrauterine growth restriction postnatal growth retardation prominent forehead triangular face asymmetry of the body |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
medical genetics
|
| gptkbp:firstDescribed |
gptkb:Henry_Silver
gptkb:Alexander_Russell 1953 |
| gptkbp:frequency |
rare
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Russell-Silver syndrome
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:OMIM |
180860
|
| gptkbp:parentField |
growth disorders
|
| gptkbp:prevalence |
1 in 30,000 to 1 in 100,000 live births
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
gptkb:hypoglycemia
delayed bone age fifth finger clinodactyly gastroesophageal reflux learning difficulties speech delay dental crowding low muscle tone relative macrocephaly |
| gptkbp:treatment |
growth hormone therapy
nutritional support |
| gptkbp:bfsParent |
gptkb:Silver-Russell_syndrome
|
| gptkbp:bfsLayer |
6
|