U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Russell-Silver syndrome(RSS)

MedGen UID:
104492
Concept ID:
C0175693
Disease or Syndrome
Synonyms: Dwarfism, Silver Russell; Dwarfism, Silver-Russell; Russell Silver Syndrome; Russell-Silver Syndrome; Russell-Silver Syndromes; Silver Russell Dwarfism; Silver Russell Syndrome; Silver-Russell Dwarfism; Silver-Russell Syndrome; Syndrome, Russell Silver; Syndrome, Russell-Silver; Syndrome, Silver-Russell; Syndromes, Russell-Silver
SNOMED CT: Russell-Silver syndrome (15069006); Silver syndrome (15069006); Russell's syndrome (15069006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: H19-ICR, HMGA2, PLAG1, IGF2
 
Monarch Initiative: MONDO:0008394
OMIM®: 180860
OMIM® Phenotypic series: PS180860
Orphanet: ORPHA813

Disease characteristics

Excerpted from the GeneReview: Silver-Russell Syndrome
Silver-Russell Syndrome (SRS) is typically characterized by gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference ≥1.5 standard deviations [SD] above birth weight and/or length), prominent forehead with frontal bossing, and frequently body asymmetry. This is typically followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, growth failure is proportionate and head growth typically normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out. [from GeneReviews]
Authors:
Howard M Saal  |  Madeleine D Harbison  |  Irene Netchine   view full author information

Additional descriptions

From OMIM
Silver-Russell syndrome-1 (SRS1) is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009). Genetic Heterogeneity of Silver-Russell Syndrome SRS2 (618905) is caused by maternal uniparental disomy of chromosome 7. SRS3 (616489) is caused by mutation in the IGF2 gene (147470) on chromosome 11p15. SRS4 (618907) is caused by mutation in the PLAG1 gene (603026) on chromosome 8q12. SRS5 (618908) is caused by mutation in the HMGA2 gene (600698) on chromosome 12q14.  http://www.omim.org/entry/180860
From MedlinePlus Genetics
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop recurrent episodes of low blood glucose (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected men is about 151 centimeters (4 feet, 11 inches) and the average height for affected women is about 140 centimeters (4 feet, 7 inches).

Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.  https://medlineplus.gov/genetics/condition/russell-silver-syndrome

Professional guidelines

PubMed

Giabicani E, Pham A, Brioude F, Mitanchez D, Netchine I
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):523-534. Epub 2018 Apr 5 doi: 10.1016/j.beem.2018.03.013. PMID: 30086872
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, Grønskov 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, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
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

Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Kemp SF, Frindik JP
Drug Des Devel Ther 2011;5:411-9. Epub 2011 Aug 30 doi: 10.2147/DDDT.S23140. PMID: 21966214Free PMC Article
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
Stanhope R, Albanese A, Azcona C
Horm Res 1998;49 Suppl 2:37-40. doi: 10.1159/000053086. PMID: 9730671
Saal HM, Pagon RA, Pepin MG
J Pediatr 1985 Nov;107(5):733-7. doi: 10.1016/s0022-3476(85)80402-9. PMID: 2414426

Diagnosis

Anderson S, Brill J, Kuchinski K
J Pediatr Health Care 2021 Nov-Dec;35(6):630-638. Epub 2021 Jun 30 doi: 10.1016/j.pedhc.2021.05.004. PMID: 34215464
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
Wee SA
Dermatol Online J 2007 Jan 27;13(1):16. PMID: 17511949
Azcona C, Stanhope R
J Pediatr Endocrinol Metab 2005 Jul;18(7):663-70. doi: 10.1515/jpem.2005.18.7.663. PMID: 16128243
Patton MA
J Med Genet 1988 Aug;25(8):557-60. doi: 10.1136/jmg.25.8.557. PMID: 3050100Free PMC Article

Therapy

Wikiera B, Nocoń-Bohusz J, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2022;28(4):301-304. doi: 10.5114/pedm.2022.121463. PMID: 36734391Free PMC Article
Kemp SF, Frindik JP
Drug Des Devel Ther 2011;5:411-9. Epub 2011 Aug 30 doi: 10.2147/DDDT.S23140. PMID: 21966214Free PMC Article
Amor DJ, Halliday J
Hum Reprod 2008 Dec;23(12):2826-34. Epub 2008 Aug 14 doi: 10.1093/humrep/den310. PMID: 18703582
Christoforidis A, Maniadaki I, Stanhope R
J Pediatr Endocrinol Metab 2005 Jul;18(7):651-2. doi: 10.1515/jpem.2005.18.7.651. PMID: 16128241
Stanhope R, Albanese A, Azcona C
Horm Res 1998;49 Suppl 2:37-40. doi: 10.1159/000053086. PMID: 9730671

Prognosis

Walsh JR, Sun G, Balan J, Hardcastle J, Vollenweider J, Jerde C, Rumilla K, Koellner C, Koleilat A, Hasadsri L, Kipp B, Jenkinson G, Klee E
BMC Bioinformatics 2024 Feb 12;25(1):66. doi: 10.1186/s12859-024-05673-1. PMID: 38347515Free PMC Article
Searle C, Johnson D
Am J Med Genet A 2016 Feb;170A(2):466-470. Epub 2015 Nov 3 doi: 10.1002/ajmg.a.37442. PMID: 26525433
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Azcona C, Stanhope R
J Pediatr Endocrinol Metab 2005 Jul;18(7):663-70. doi: 10.1515/jpem.2005.18.7.663. PMID: 16128243
Saal HM, Pagon RA, Pepin MG
J Pediatr 1985 Nov;107(5):733-7. doi: 10.1016/s0022-3476(85)80402-9. PMID: 2414426

Clinical prediction guides

Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. PMID: 29659920
Sato C, Ogawa T, Tsuge R, Shiga M, Tsuji M, Baba Y, Kosaki K, Moriyama K
Congenit Anom (Kyoto) 2016 Sep;56(5):217-25. doi: 10.1111/cga.12162. PMID: 26915482
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
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
Wheeler PG, Bresnahan K, Shephard BA, Lau J, Balk EM
Arch Pediatr Adolesc Med 2004 Mar;158(3):236-43. doi: 10.1001/archpedi.158.3.236. PMID: 14993082

Recent systematic reviews

Wheeler PG, Bresnahan K, Shephard BA, Lau J, Balk EM
Arch Pediatr Adolesc Med 2004 Mar;158(3):236-43. doi: 10.1001/archpedi.158.3.236. PMID: 14993082

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...