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Gingival fibromatosis-facial dysmorphism syndrome

MedGen UID:
346437
•Concept ID:
C1856761
•
Disease or Syndrome
Synonyms: Gingival fibromatosis with craniofacial dysmorphism; Gingival fibromatosis with distinctive facies
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009228
OMIM®: 228560
Orphanet: ORPHA2025

Definition

A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGingival fibromatosis-facial dysmorphism syndrome
Follow this link to review classifications for Gingival fibromatosis-facial dysmorphism syndrome in Orphanet.

Professional guidelines

PubMed

Facts and myths regarding the maxillary midline frenum and its treatment: a systematic review of the literature.
Delli K, Livas C, Sculean A, Katsaros C, Bornstein MM
Quintessence Int 2013 Feb;44(2):177-87. doi: 10.3290/j.qi.a28925. PMID: 23444184
Criteria for diagnosis of Sjogren-Jones syndromes.
Murube J
Ocul Surf 2011 Apr;9(2):61-9. doi: 10.1016/s1542-0124(11)70013-1. PMID: 21545760
CREST syndrome: clinical manifestations and dental management.
Chaffee NR
J Prosthodont 1998 Sep;7(3):155-60. doi: 10.1111/j.1532-849x.1998.tb00198.x. PMID: 9807098

Recent clinical studies

Etiology

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
Chen J, Xu X, Chen S, Lu T, Zheng Y, Gan Z, Shen Z, Ma S, Wang D, Su L, He F, Shang X, Xu H, Chen D, Zhang L, Xiong F
Int J Oral Sci 2023 Sep 26;15(1):46. doi: 10.1038/s41368-023-00244-1. PMID: 37752101Free PMC Article
Clinical Considerations of Ehlers-Danlos Syndrome for Implant Dentistry: Two Case Reports.
Bergamini M, Froum S, Oliveira LL, Li TY, Eriguel J, Natour M, Cho SC
Int J Periodontics Restorative Dent 2023 May;43(2):e81-e87. Epub 2023 May 25 doi: 10.11607/prd.5842. PMID: 36520118
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y
J Hum Genet 2016 Jan;61(1):33-9. Epub 2015 Oct 8 doi: 10.1038/jhg.2015.114. PMID: 26446362
Periodontal diseases in young individuals.
Dougherty MA, Slots J
J Calif Dent Assoc 1993 Jan;21(1):55-69. PMID: 7682608
Periodontal disease in Down's syndrome: a review.
Reuland-Bosma W, van Dijk J
J Clin Periodontol 1986 Jan;13(1):64-73. doi: 10.1111/j.1600-051x.1986.tb01416.x. PMID: 2935562

Diagnosis

Oral healthcare management in Bardet Biedl syndrome.
Hassona Y, Kasabreh N, Hammoudeh H, Scully C
Spec Care Dentist 2017 Jan;37(1):47-50. Epub 2016 Aug 29 doi: 10.1111/scd.12198. PMID: 27571505
FTO variant associated with malformation syndrome.
Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K
Am J Med Genet A 2016 Apr;170A(4):1023-8. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37515. PMID: 26697951
Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y
Am J Med Genet A 2014 Aug;164A(8):2124-8. Epub 2014 Apr 22 doi: 10.1002/ajmg.a.36579. PMID: 24756937
Wolcott-Rallison syndrome.
Juneja A, Sultan A, Bhatnagar S
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. PMID: 23263430
Yunis Varon syndrome.
Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, Mohammed Z, Kulkarni PM
Indian J Pediatr 2006 Apr;73(4):353-5. doi: 10.1007/BF02825832. PMID: 16816498

Therapy

Periodontal growth in areas of vascular malformation in patients with Sturge-Weber syndrome: a management protocol.
Pontes FS, Conte Neto N, da Costa RM, Loureiro AM, do Nascimento LS, Pontes HA
J Craniofac Surg 2014 Jan;25(1):e1-3. doi: 10.1097/SCS.0b013e3182a2eb1d. PMID: 24240770
A review of factors influencing the incidence and severity of plaque-induced gingivitis.
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258
CREST syndrome: clinical manifestations and dental management.
Chaffee NR
J Prosthodont 1998 Sep;7(3):155-60. doi: 10.1111/j.1532-849x.1998.tb00198.x. PMID: 9807098
Congenital poisoning by polychlorinated biphenyls and their contaminants in Taiwan.
Rogan WJ, Gladen BC, Hung KL, Koong SL, Shih LY, Taylor JS, Wu YC, Yang D, Ragan NB, Hsu CC
Science 1988 Jul 15;241(4863):334-6. doi: 10.1126/science.3133768. PMID: 3133768
Some disorders exhibiting brachytelephalangy.
Gorlin RJ
Birth Defects Orig Artic Ser 1977;13(1):243-57. PMID: 322748

Prognosis

Oral manifestations of congenital Zika virus infection in children with microcephaly: 18-month follow-up case series.
Medina DT, Santos APPD, Rodrigues FMDF, Oliveira BH
Spec Care Dentist 2022 Jul;42(4):343-351. Epub 2021 Nov 22 doi: 10.1111/scd.12681. PMID: 34811766
Oral Care in Kindler Syndrome: 7-Year Follow-up of 2 Brothers.
Blanchet I, Tardieu C, Casazza E
J Clin Pediatr Dent 2021 Jan 1;45(1):41-47. doi: 10.17796/1053-4625-45.1.8. PMID: 33690828
FTO variant associated with malformation syndrome.
Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K
Am J Med Genet A 2016 Apr;170A(4):1023-8. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37515. PMID: 26697951
A review of factors influencing the incidence and severity of plaque-induced gingivitis.
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258
Rothmund-Thomson syndrome: a case report.
Haytaç MC, Oztunç H, Mete UO, Kaya M
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002 Oct;94(4):479-84. doi: 10.1067/moe.2002.127584. PMID: 12374924

Clinical prediction guides

Clinics and genetic background of hereditary gingival fibromatosis.
Strzelec K, Dziedzic A, Łazarz-Bartyzel K, Grabiec AM, Gutmajster E, Kaczmarzyk T, Plakwicz P, Gawron K
Orphanet J Rare Dis 2021 Nov 24;16(1):492. doi: 10.1186/s13023-021-02104-9. PMID: 34819125Free PMC Article
KBG syndrome in two patients from Egypt.
Sayed ISM, Abdel-Hamid MS, Abdel-Salam GMH
Am J Med Genet A 2020 Jun;182(6):1309-1312. Epub 2020 Mar 28 doi: 10.1002/ajmg.a.61552. PMID: 32222090
FTO variant associated with malformation syndrome.
Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K
Am J Med Genet A 2016 Apr;170A(4):1023-8. Epub 2015 Dec 24 doi: 10.1002/ajmg.a.37515. PMID: 26697951
A review of factors influencing the incidence and severity of plaque-induced gingivitis.
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258
Periodontal disease in Down's syndrome: a review.
Reuland-Bosma W, van Dijk J
J Clin Periodontol 1986 Jan;13(1):64-73. doi: 10.1111/j.1600-051x.1986.tb01416.x. PMID: 2935562

Recent systematic reviews

Peripheral odontogenic keratocyst: Clinicopathological and immunohistochemical characterization.
Lafuente-Ibáñez de Mendoza I, Aguirre-Urizar JM, Villatoro-Ugalde V, Magaña-Quiñones JJ, Lana-Ojeda J, Mosqueda-Taylor A
Oral Dis 2022 May;28(4):1198-1206. Epub 2021 Mar 21 doi: 10.1111/odi.13834. PMID: 33682271
Oral Microbiota Features in Subjects with Down Syndrome and Periodontal Diseases: A Systematic Review.
Contaldo M, Lucchese A, Romano A, Della Vella F, Di Stasio D, Serpico R, Petruzzi M
Int J Mol Sci 2021 Aug 26;22(17) doi: 10.3390/ijms22179251. PMID: 34502159Free PMC Article
Hereditary gingival fibromatosis in children: a systematic review of the literature.
Boutiou E, Ziogas IA, Giannis D, Doufexi AE
Clin Oral Investig 2021 Jun;25(6):3599-3607. Epub 2020 Nov 13 doi: 10.1007/s00784-020-03682-x. PMID: 33188467
Syndromes with gingival fibromatosis: A systematic review.
Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC
Oral Dis 2021 May;27(4):881-893. Epub 2020 May 25 doi: 10.1111/odi.13369. PMID: 32335995
Association between Marfan syndrome and oral health status: A systematic review and meta-analysis.
Galletti C, Camps-Font O, Teixidó-Turà G, Llobet-Poal I, Gay-Escoda C
Med Oral Patol Oral Cir Bucal 2019 Jul 1;24(4):e473-e482. doi: 10.4317/medoral.23037. PMID: 31232392Free PMC Article

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