"Silver-Russell Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
| Descriptor ID |
D056730
|
| MeSH Number(s) |
C05.660.207.925 C16.131.077.855 C16.131.260.870 C16.320.180.870 C16.320.240.937
|
| Concept/Terms |
Silver-Russell Syndrome- Silver-Russell Syndrome
- Silver Russell Syndrome
- Syndrome, Silver-Russell
- Russell-Silver Syndrome
- Russell Silver Syndrome
- Syndrome, Russell Silver
- Silver Russell Dwarfism
- Dwarfism, Silver Russell
- Silver-Russell Dwarfism
- Dwarfism, Silver-Russell
|
Below are MeSH descriptors whose meaning is more general than "Silver-Russell Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Silver-Russell Syndrome".
This graph shows the total number of publications written about "Silver-Russell Syndrome" by people in this website by year, and whether "Silver-Russell Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Silver-Russell Syndrome" by people in Profiles.
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clin Genet. 2019 04; 95(4):534-536.