U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gardner Syndrome With Breast Desmoid Tumors.
Maimone S, Lewis JT
Mayo Clin Proc 2022 Oct;97(10):1894-1896. doi: 10.1016/j.mayocp.2022.06.014. PMID: 36202497
Recurrent CTNNB1 mutations in craniofacial osteomas.
Baumhoer D, Berthold R, Isfort I, Heinst L, Ameline B, Grünewald I, Thieringer FM, Rudack C, Wardelmann E, Vieth V, Sperveslage J, Trautmann M, Hartmann W
Mod Pathol 2022 Apr;35(4):489-494. Epub 2021 Nov 1 doi: 10.1038/s41379-021-00956-x. PMID: 34725446Free PMC Article
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

Therapy

Explosion from argon cautery during proctoileoscopy of a patient with a colectomy.
Lin OS, Biehl T, Jiranek GC, Kozarek RA
Clin Gastroenterol Hepatol 2012 Oct;10(10):1176-1178.e2. Epub 2012 Jun 19 doi: 10.1016/j.cgh.2012.06.004. PMID: 22728385
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
Successful treatment of a desmoid tumor with doxorubicin.
Seiter K, Kemeny N
Cancer 1993 Apr 1;71(7):2242-4. doi: 10.1002/1097-0142(19930401)71:7<2242::aid-cncr2820710713>3.0.co;2-0. PMID: 8453544
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
Familial polyposis coli.
Murphy EA, Krush AJ
Prog Med Genet 1980;4:59-101. PMID: 6255515

Prognosis

Long-term follow-up of torpedo maculopathy: a case series and mini-review.
Trevino RC, Ridder WH 3rd, Laul A, Hill J
BMC Ophthalmol 2024 Jan 3;24(1):5. doi: 10.1186/s12886-023-03254-z. PMID: 38172762Free PMC Article
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
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
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Clinical prediction guides

Long-term follow-up of torpedo maculopathy: a case series and mini-review.
Trevino RC, Ridder WH 3rd, Laul A, Hill J
BMC Ophthalmol 2024 Jan 3;24(1):5. doi: 10.1186/s12886-023-03254-z. PMID: 38172762Free PMC Article
Papillary thyroid carcinoma with desmoid fibromatosis: a case report and review of literature.
Ramírez Stieben LA, Pozzi D
Rev Fac Cien Med Univ Nac Cordoba 2023 Sep 29;80(3):289-300. doi: 10.31053/1853.0605.v80.n3.40408. PMID: 37773341Free PMC Article
Explosion from argon cautery during proctoileoscopy of a patient with a colectomy.
Lin OS, Biehl T, Jiranek GC, Kozarek RA
Clin Gastroenterol Hepatol 2012 Oct;10(10):1176-1178.e2. Epub 2012 Jun 19 doi: 10.1016/j.cgh.2012.06.004. PMID: 22728385
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

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.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...