Gingival fibromatosis - progressive deafness

General Information (adopted from Orphanet):

Synonyms, Signs: GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS
GFD
jones syndrome
Number of Symptoms 6
OrphanetNr: 2027
OMIM Id: 135550
ICD-10: H90.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
2
(HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
3
(HPO:0000169) Gingival fibromatosis 14 / 7739
4
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
5
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jones et al. (1977) described a family with gingival fibromatosis (see 135300) associated with progressive sensorineural hearing loss in 5 generations. Whereas 9 persons had GF without demonstrated or reported deafness, all 16 persons with a hearing loss ...