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Gingival fibromatosis-progressive deafness syndrome(GFD)

MedGen UID:
341928
•Concept ID:
C1851112
•
Disease or Syndrome
Synonyms: Familial gingival fibromatosis associated with progressive deafness; Gingival fibromatosis with progressive deafness; Gingival fibromatosis with sensorineural hearing loss; Jones syndrome
SNOMED CT: Gingival fibromatosis with progressive deafness syndrome (722449007); Jones syndrome (722449007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007612
OMIM®: 135550
Orphanet: ORPHA2027

Definition

This syndrome has characteristics of gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

Clinical features

From HPO
Gingival fibromatosis
MedGen UID:
42017
•Concept ID:
C0016049
•
Finding
The presence of fibrosis of the gingiva.
See: Feature record | Search on this feature
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.
Zmysłowska-Polakowska E, Płoszaj T, Skoczylas S, Mojsak P, Ciborowski M, Kretowski A, Lukomska-Szymanska M, Szadkowska A, Mlynarski W, Zmysłowska A
Int J Mol Sci 2023 Mar 15;24(6) doi: 10.3390/ijms24065596. PMID: 36982670Free PMC Article
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
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

Diagnosis

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
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
Gingival fibromatosis with multiple unusual findings: report of a rare case.
He L, Ping FY
Int J Oral Sci 2012 Dec;4(4):221-5. Epub 2012 Sep 7 doi: 10.1038/ijos.2012.53. PMID: 22955199Free PMC Article
Wide clinical spectrum in Zimmermann-Laband syndrome.
Davalos IP, Brambila-Tapia AJ, Dávalos NO, Durán-González J, González-Mercado MG, Cruz-Ramos JA, Ríos-González BE, E'vega R, Zavala-Cerna MG, García-Cruz MO, García-cruz D
Genet Couns 2011;22(1):1-10. PMID: 21614982
Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.
Boralevi F, Haftek M, Vabres P, Lepreux S, Goizet C, Leaute-Labreze C, Taieb A
Br J Dermatol 2005 Aug;153(2):310-8. doi: 10.1111/j.1365-2133.2005.06664.x. PMID: 16086741
Hereditary gingival fibromatosis and sensorineural hearing loss in a 42-year-old man with Jones syndrome.
Kasaboğlu O, Tümer C, Balci S
Genet Couns 2004;15(2):213-8. PMID: 15287422

Therapy

Dracula's teeth syndrome.
Jacome DE
Headache 2001 Oct;41(9):892-4. PMID: 11703477

Clinical prediction guides

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T, Horii KA, Richard G, Wasserman DI, Antaya RJ
Pediatr Dermatol 2008 Sep-Oct;25(5):535-40. doi: 10.1111/j.1525-1470.2008.00767.x. PMID: 18950394

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