Statements (41)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:abbreviation |
gptkb:SRS
|
| gptkbp:affects |
children
infants |
| gptkbp:alsoKnownAs |
gptkb:Russell-Silver_syndrome
|
| gptkbp:causedBy |
genetic mutations
chromosome 11p15.5 hypomethylation chromosome 7 imprinting defects |
| gptkbp:characterizedBy |
short stature
body asymmetry clinodactyly feeding difficulties fifth finger clinodactyly intrauterine growth restriction postnatal growth retardation prominent forehead triangular face |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
medical genetics
pediatrics |
| gptkbp:firstDescribed |
gptkb:Henry_Silver
gptkb:Alexander_Russell 1953 |
| gptkbp:frequency |
1 in 30,000 to 1 in 100,000 live births
|
| gptkbp:hasOrphanetID |
933
|
| https://www.w3.org/2000/01/rdf-schema#label |
Silver-Russell syndrome
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:OMIM |
180860
|
| gptkbp:symptom |
delayed bone age
feeding problems learning difficulties low birth weight motor delay speech delay |
| gptkbp:treatment |
growth hormone therapy
nutritional support |
| gptkbp:bfsParent |
gptkb:chromosome_11p15.5_(HRAS)
|
| gptkbp:bfsLayer |
5
|