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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

MedGen UID:
1826074
Concept ID:
C5680247
Disease or Syndrome
Synonyms: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7; Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7; UPD(7)mat
 
Monarch Initiative: MONDO:0019913
Orphanet: ORPHA96182

Definition

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSilver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Professional guidelines

PubMed

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P
Eur J Hum Genet 2016 Jun;24(6):784-93. Epub 2015 Oct 28 doi: 10.1038/ejhg.2015.224. PMID: 26508573Free PMC Article
Marsaud C, Rossignol S, Tounian P, Netchine I, Dubern B
Arch Dis Child 2015 Apr;100(4):353-8. Epub 2014 Nov 18 doi: 10.1136/archdischild-2013-305864. PMID: 25700540
Eggermann T, Begemann M, Binder G, Spengler S
Orphanet J Rare Dis 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. PMID: 20573229Free PMC Article

Recent clinical studies

Etiology

Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL
J Clin Endocrinol Metab 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. PMID: 38888172Free PMC Article
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965
Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH
Pediatr Endocrinol Diabetes Metab 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009. PMID: 26615046
Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U
Clin Genet 2012 Nov;82(5):494-8. Epub 2011 Oct 19 doi: 10.1111/j.1399-0004.2011.01792.x. PMID: 21954990
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Diagnosis

Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL
J Clin Endocrinol Metab 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. PMID: 38888172Free PMC Article
Giabicani E, Netchine I, Brioude F
Curr Opin Pediatr 2016 Aug;28(4):529-35. doi: 10.1097/MOP.0000000000000379. PMID: 27386972
Binder G, Begemann M, Eggermann T, Kannenberg K
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. PMID: 21396582
Wakeling EL
Arch Dis Child 2011 Dec;96(12):1156-61. Epub 2011 Feb 24 doi: 10.1136/adc.2010.190165. PMID: 21349887
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Therapy

Świąder-Leśniak A, Jurkiewicz D, Kołodziejczyk H, Kozłowska A, Korpysz A, Szalecki M, Chrzanowska K
Endokrynol Pol 2023;74(3):285-293. Epub 2023 Jun 19 doi: 10.5603/EP.a2023.0042. PMID: 37335065
Giabicani É, Boulé M, Aubertin G, Galliani E, Brioude F, Dubern B, Netchine I
Sleep Med 2019 Dec;64:23-29. Epub 2019 Jun 15 doi: 10.1016/j.sleep.2019.05.020. PMID: 31655321
Sienko M, Petriczko E, Zajaczek S, Zygmunt-Gorska A, Starzyk J, Korpysz A, Petriczko J, Walczak A, Walczak M
Neuro Endocrinol Lett 2017 Dec;38(6):415-421. PMID: 29298282
Smeets CC, Zandwijken GR, Renes JS, Hokken-Koelega AC
J Clin Endocrinol Metab 2016 May;101(5):2105-12. Epub 2016 Mar 23 doi: 10.1210/jc.2015-4273. PMID: 27007691
Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R
Horm Res Paediatr 2013;80(3):193-200. Epub 2013 Sep 18 doi: 10.1159/000354658. PMID: 24051620

Prognosis

Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgz151. PMID: 31665337
Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J
Epigenetics 2014 Mar;9(3):351-65. Epub 2013 Nov 18 doi: 10.4161/epi.27160. PMID: 24247273Free PMC Article
Wakeling EL
Arch Dis Child 2011 Dec;96(12):1156-61. Epub 2011 Feb 24 doi: 10.1136/adc.2010.190165. PMID: 21349887
Eggermann T, Begemann M, Binder G, Spengler S
Orphanet J Rare Dis 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. PMID: 20573229Free PMC Article
Noeker M, Wollmann HA
Dev Med Child Neurol 2004 May;46(5):340-6. PMID: 15132265

Clinical prediction guides

Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL
J Clin Endocrinol Metab 2024 Sep 16;109(10):e1889-e1901. doi: 10.1210/clinem/dgae423. PMID: 38888172Free PMC Article
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965
Giabicani E, Netchine I, Brioude F
Curr Opin Pediatr 2016 Aug;28(4):529-35. doi: 10.1097/MOP.0000000000000379. PMID: 27386972
Binder G, Begemann M, Eggermann T, Kannenberg K
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. PMID: 21396582
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Recent systematic reviews

Singh A, Pajni K, Panigrahi I, Khetarpal P
Curr Pediatr Rev 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. PMID: 35293298

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