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DeCS
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Descriptor English:
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Silver-Russell Syndrome
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Descriptor Spanish:
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Síndrome de Silver-Russell
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Descriptor Portuguese:
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Síndrome de Silver-Russell
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Synonyms English:
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Dwarfism, Silver Russell
Dwarfism, Silver-Russell
Russell Silver Syndrome
Russell-Silver Syndrome
Silver Russell Dwarfism
Silver Russell Syndrome
Silver-Russell Dwarfism
Syndrome, Russell Silver
Syndrome, Silver-Russell
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Tree Number:
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C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
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Definition English:
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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. |
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See Related English:
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Beckwith-Wiedemann Syndrome
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History Note English:
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2010
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Allowable Qualifiers English:
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Record Number:
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53498
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Unique Identifier:
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D056730
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Occurrence in VHL:
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Similar:
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DeCS
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