Síndrome de Silver-Russell
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Silver-Russell syndrome is a rare disorder that is characterised by slow growth before and after birth. Babies with this condition typically have a low birth weight and often do not grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear large compared to the rest of the body. In some affected individuals, one side of the body may be bigger than the other.
Descrição
Silver-Russell syndrome is a rare disorder that is characterised by slow growth before and after birth. Babies with this condition typically have a low birth weight and often do not grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear large compared to the rest of the body. In some affected individuals, one side of the body may be bigger than the other.
Affected children often have difficulty feeding. Some children develop recurrent episodes of low blood glucose (hypoglycemia). Gastrointestinal problems, such as vomiting and a backflow of stomach acid into the esophagus (called gastroesophageal reflux or GERD), are also common.
Adults with Silver-Russell syndrome are typically shorter than average and may have an increased risk of developing metabolic problems such as type 2 diabetes (the most common form of diabetes). Affected individuals often have asymmetric or uneven growth of certain parts of the body, such as the arms and legs. Additional skeletal features may include an unusual curving of the fifth finger (clinodactyly), short fingers (brachydactyly), and abnormal curvature of the spine (scoliosis).
Many people with Silver-Russell syndrome have a small, triangular face with distinctive features, including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth.
Other features can include the delayed development of motor skills, speech and language problems, and learning disabilities.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
RSS
Russell-Silver syndrome
Silver-Russell dwarfism
SRS
Related patient information and medicines
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Cri du chat syndrome
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Leitura adicional e referências
- Síndrome de Silver-Russell; MedlinePlus, National Library of Medicine.
- Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 Dec 21.
- Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T. Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. Clin Epigenetics. 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y.
- Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis of Silver-Russell syndrome. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43.
- Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274.
- Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. 2005 Sep;37(9):1003-7. doi: 10.1038/ng1629. Epub 2005 Aug 7.
- Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenetics. 2020 Jun 16;12(1):86. doi: 10.1186/s13148-020-00865-x.
- Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019 Jun;56(6):413-418. doi: 10.1136/jmedgenet-2018-105463. Epub 2018 Sep 21.
- Lokulo-Sodipe O, Ballard L, Child J, Inskip HM, Byrne CD, Ishida M, Moore GE, Wakeling EL, Fenwick A, Mackay DJG, Davies JH, Temple IK. Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. J Med Genet. 2020 Oct;57(10):683-691. doi: 10.1136/jmedgenet-2019-106561. Epub 2020 Feb 13.
- Lokulo-Sodipe O, Inskip HM, Byrne CD, Child J, Wakeling EL, Mackay DJG, Temple IK, Davies JH. Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome. J Clin Endocrinol Metab. 2024 Oct 15;109(11):e2001-e2008. doi: 10.1210/clinem/dgae074.
- Saal HM, Harbison MD, Netchine I. Silver-Russell Syndrome. 2002 Nov 2 [updated 2025 Jan 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1324/
- Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Gronskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tumer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.
- Wakeling EL. Silver-Russell syndrome. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24.
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