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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
Short tooth syndrome: diagnosis, etiology, and treatment management.
Chu SJ, Karabin S, Mistry S
J Calif Dent Assoc 2004 Feb;32(2):143-52. PMID: 15022706
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
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
Gingival fibromatosis: clinical, molecular and therapeutic issues.
Gawron K, Łazarz-Bartyzel K, Potempa J, Chomyszyn-Gajewska M
Orphanet J Rare Dis 2016 Jan 27;11:9. doi: 10.1186/s13023-016-0395-1. PMID: 26818898Free PMC Article
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
Heterogeneity in gingival fibromatosis.
Witkop CJ Jr
Birth Defects Orig Artic Ser 1971 Jun;7(7):210-21. PMID: 4950923

Diagnosis

Enamel-Renal-Syndrome: case report.
Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, Silva DN, Velloso TRG, de Barros LAP
Spec Care Dentist 2018 May;38(3):172-175. Epub 2018 Apr 19 doi: 10.1111/scd.12288. PMID: 29672880
Steinert syndrome and repercussions in dental medicine.
Baptista H, Lopes Cardoso I
Arch Oral Biol 2017 Mar;75:37-47. Epub 2016 Dec 23 doi: 10.1016/j.archoralbio.2016.12.008. PMID: 28040606
Gingival fibromatosis: clinical, molecular and therapeutic issues.
Gawron K, Łazarz-Bartyzel K, Potempa J, Chomyszyn-Gajewska M
Orphanet J Rare Dis 2016 Jan 27;11:9. doi: 10.1186/s13023-016-0395-1. PMID: 26818898Free PMC Article
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
Hereditary gingival fibromatosis--a review.
DeAngelo S, Murphy J, Claman L, Kalmar J, Leblebicioglu B
Compend Contin Educ Dent 2007 Mar;28(3):138-43; quiz 144, 152. PMID: 17385395

Therapy

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
ORO-Dental Manifestations in West Syndrome.
Della Vella F, Contaldo M, Fucile R, Panza F, Dibello V, Kalemaj Z, Ninivaggi R, Petruzzi M, Serpico R
Curr Top Med Chem 2019;19(31):2824-2828. doi: 10.2174/1568026619666191114122732. PMID: 31724502
Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V
Epileptic Disord 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. PMID: 27267311
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
Impact of phenytoin therapy on the skin and skin disease.
Scheinfeld N
Expert Opin Drug Saf 2004 Nov;3(6):655-65. doi: 10.1517/14740338.3.6.655. PMID: 15500423

Prognosis

Steinert syndrome and repercussions in dental medicine.
Baptista H, Lopes Cardoso I
Arch Oral Biol 2017 Mar;75:37-47. Epub 2016 Dec 23 doi: 10.1016/j.archoralbio.2016.12.008. PMID: 28040606
Gummy Smile and Short Tooth Syndrome--Part 1: Etiopathogenesis, Classification, and Diagnostic Guidelines.
Pavone AF, Ghassemian M, Verardi S
Compend Contin Educ Dent 2016 Feb;37(2):102-7; quiz 108-10. PMID: 26905089
Gingival fibromatosis: clinical, molecular and therapeutic issues.
Gawron K, Łazarz-Bartyzel K, Potempa J, Chomyszyn-Gajewska M
Orphanet J Rare Dis 2016 Jan 27;11:9. doi: 10.1186/s13023-016-0395-1. PMID: 26818898Free PMC Article
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
Current concepts on gingival fibromatosis-related syndromes.
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785

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
Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
Gürsoy S, Hazan F, Kaderli B, Meşe T, Tükün A
J Clin Pediatr Dent 2020 Aug 1;44(4):262-267. doi: 10.17796/1053-4625-44.4.8. PMID: 33167018
Enamel-Renal-Syndrome: case report.
Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, Silva DN, Velloso TRG, de Barros LAP
Spec Care Dentist 2018 May;38(3):172-175. Epub 2018 Apr 19 doi: 10.1111/scd.12288. PMID: 29672880
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

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
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
Hereditary gingival fibromatosis: a systematic review.
Coletta RD, Graner E
J Periodontol 2006 May;77(5):753-64. doi: 10.1902/jop.2006.050379. PMID: 16671866

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