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Gardner syndrome(GS)

MedGen UID:
6547
•Concept ID:
C0017097
•
Disease or Syndrome
Synonyms: Gardner's syndrome; GS; Intestinal polyposis, osteomas, sebaceous cysts; Polyposis coli and multiple hard and soft tissue tumors
SNOMED CT: Gardner syndrome (60876000); GS - Gardner's syndrome (60876000)
 
Monarch Initiative: MONDO:0019336
Orphanet: ORPHA79665

Definition

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGardner syndrome
Follow this link to review classifications for Gardner syndrome in Orphanet.

Professional guidelines

PubMed

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A, Ferreras C, Rodriguez-Salas N, Corral D, Rodriguez L, Pérez-Martínez A
Int J Clin Oncol 2022 May;27(5):992-1000. Epub 2022 Feb 21 doi: 10.1007/s10147-022-02133-9. PMID: 35190929
The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232

Recent clinical studies

Etiology

Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Colon polyps.
Watne AL
J Surg Oncol 1997 Nov;66(3):207-14. doi: 10.1002/(sici)1096-9098(199711)66:3<207::aid-jso10>3.0.co;2-z. PMID: 9369968
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Diagnosis

Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
The cutaneous manifestations of gastrointestinal malignancy.
Schadt CR
Semin Oncol 2016 Jun;43(3):341-6. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.028. PMID: 27178686
Hamartoneoplastic syndromes.
Shafer DM, Di Pasquale LM
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):153-66. doi: 10.1016/j.cxom.2014.04.002. PMID: 25171996
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Therapy

Gene-expression profiling of adrenocortical carcinoma.
Suh I, Guerrero MA, Kebebew E
Expert Rev Mol Diagn 2009 May;9(4):343-51. doi: 10.1586/erm.09.13. PMID: 19441174
Familial thyroid cancer.
Alsanea O, Clark OH
Curr Opin Oncol 2001 Jan;13(1):44-51. doi: 10.1097/00001622-200101000-00009. PMID: 11148685
Sulindac for polyposis of the colon.
Waddell WR, Ganser GF, Cerise EJ, Loughry RW
Am J Surg 1989 Jan;157(1):175-9. doi: 10.1016/0002-9610(89)90442-x. PMID: 2535920
What's new in colon carcinogenesis?
Grundmann E
Pathol Res Pract 1985 Jan;179(3):429-32. doi: 10.1016/S0344-0338(85)80154-0. PMID: 2984646
Sulindac for polyposis of the colon.
Waddell WR, Loughry RW
J Surg Oncol 1983 Sep;24(1):83-7. doi: 10.1002/jso.2930240119. PMID: 6887943

Prognosis

The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Abdominal manifestations of neurologic disorders.
Bhavsar AS, Verma S, Lamba R, Lall CG, Koenigsknecht V, Rajesh A
Radiographics 2013 Jan-Feb;33(1):135-53. doi: 10.1148/rg.331125097. PMID: 23322834
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Clinical prediction guides

Spectrum of Hybrid Cysts and Their Clinical Significance.
Chang RS, Yao XF, Wu YH
Am J Dermatopathol 2018 Jun;40(6):397-400. doi: 10.1097/DAD.0000000000001006. PMID: 28937429
Attenuated adenomatous polyposis of the large bowel: Present and future.
Roncucci L, Pedroni M, Mariani F
World J Gastroenterol 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. PMID: 28694653Free PMC Article
Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
Ponti G, Tomasi A, Manfredini M, Pellacani G
Gene 2016 May 10;582(1):23-32. Epub 2016 Feb 3 doi: 10.1016/j.gene.2016.01.053. PMID: 26850131
Oral and maxillofacial manifestations of familial adenomatous polyposis.
Wijn MA, Keller JJ, Giardiello FM, Brand HS
Oral Dis 2007 Jul;13(4):360-5. doi: 10.1111/j.1601-0825.2006.01293.x. PMID: 17577321
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Recent systematic reviews

Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review.
Kostakis ID, Feretis T, Damaskos C, Garmpis N, Liapis G, Pateras I, Garmpi A, Georgakopoulou VE, Antoniou EA
In Vivo 2020 Sep-Oct;34(5):2217-2223. doi: 10.21873/invivo.12032. PMID: 32871744Free PMC Article
Ameloblastoma associated with syndromes: A systematic review.
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213

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    Related information

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      Clinical tests in GTR
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