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Silver-Russell Syndrome MeSH Descriptor Data 2022


MeSH Heading
Silver-Russell Syndrome
Tree Number(s)
C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
Unique ID
D056730
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056730
Scope Note
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.
Entry Term(s)
Russell Silver Syndrome
Russell-Silver Syndrome
Silver Russell Dwarfism
Silver-Russell Dwarfism
Previous Indexing
Growth Disorders (1970-2009)
See Also
Beckwith-Wiedemann Syndrome
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2013/07/08
Silver-Russell Syndrome Preferred
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