| Descriptor English: | Silver-Russell Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Silver-Russell
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| Descriptor Portuguese: | Síndrome de Silver-Russell | ||||||
| Descriptor French: | Syndrome de Silver-Russell | ||||||
| Entry term(s): |
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(s): |
C05.660.207.925 C16.131.077.855 C16.131.260.870 C16.320.180.870 C16.320.240.937 C16.320.447.750 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Growth Disorders (1970-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| Related: |
Beckwith-Wiedemann Syndrome
MeSH | ||||||
| DeCS ID: | 53498 | ||||||
| Unique ID: | D056730 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2013/07/08 |
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Silver-Russell Syndrome
- Preferred
| 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. |
| Preferred term | Silver-Russell Syndrome |
| Entry term(s) |
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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