Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:Russell-Silver_syndrome
gptkb:Silver-Russell_syndrome |
| gptkbp:category |
rare disease
growth disorder |
| gptkbp:causedBy |
genetic mutations
chromosome 7 imprinting defects chromosome 11p15 imprinting defects |
| gptkbp:characterizedBy |
short stature
body asymmetry clinodactyly feeding difficulties intrauterine growth restriction postnatal growth retardation triangular face |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Henry_Silver
gptkb:Alexander_Russell 1953 |
| https://www.w3.org/2000/01/rdf-schema#label |
Russell-Silver dwarfism
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:OMIM |
180860
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
delayed bone age fifth finger clinodactyly learning difficulties low birth weight prominent forehead downturned mouth corners |
| gptkbp:treatment |
growth hormone therapy
nutritional support |
| gptkbp:bfsParent |
gptkb:Russell-Silver_syndrome
|
| gptkbp:bfsLayer |
7
|