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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).
 
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

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
Chu SJ, Karabin S, Mistry S
J Calif Dent Assoc 2004 Feb;32(2):143-52. PMID: 15022706
Sakellari D, Belibasakis G, Chadjipadelis T, Arapostathis K, Konstantinidis A
Oral Microbiol Immunol 2001 Dec;16(6):376-82. doi: 10.1034/j.1399-302x.2001.160610.x. PMID: 11737662

Recent clinical studies

Etiology

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
Dou Y, Xin J, Zhou P, Tang J, Xie H, Fan W, Zhang Z, Wu D
Front Endocrinol (Lausanne) 2023;14:1008675. Epub 2023 Jan 23 doi: 10.3389/fendo.2023.1008675. PMID: 36755917Free PMC Article
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
Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786
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

Diagnosis

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
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
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
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
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

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
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
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258
Scheinfeld N
Expert Opin Drug Saf 2004 Nov;3(6):655-65. doi: 10.1517/14740338.3.6.655. PMID: 15500423
Scheinfeld N
Dermatol Online J 2003 Aug;9(3):6. PMID: 12952753

Prognosis

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
Pavone AF, Ghassemian M, Verardi S
Compend Contin Educ Dent 2016 Feb;37(2):102-7; quiz 108-10. PMID: 26905089
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
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258
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

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
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
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
Pavone AF, Ghassemian M, Verardi S
Compend Contin Educ Dent 2016 Feb;37(2):102-7; quiz 108-10. PMID: 26905089
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258

Recent systematic reviews

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

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