- Concept UI
- M0528886
- 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.
- Terms
-
Silver-Russell Syndrome
Preferred Term
Term UI
T733979
Date01/27/2009
LexicalTag
EPO
ThesaurusID
-
Silver-Russell Dwarfism
Term UI
T733980
Date01/27/2009
LexicalTag
EPO
ThesaurusID
-
Russell Silver Syndrome
Term UI
T769779
Date04/19/2010
LexicalTag
EPO
ThesaurusID
-
Russell-Silver Syndrome
Term UI
T812070
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
Silver Russell Dwarfism
Term UI
T734572
Date02/05/2009
LexicalTag
EPO
ThesaurusID