Gingival fibromatosis-progressive deafness syndrome
Synonyms: Gingival fibromatosis-progressive hearing loss syndrome · Jones syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare syndrome characterized by 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gingival fibromatosis-progressive deafness syndrome | Gingival fibromatosis-progressive hearing loss syndrome · Jones syndrome |
| fr | Syndrome de fibromatose gingivale-surdité | Syndrome de Jones |
| de | Gingiva-Fibromatose-progressive Schwerhörigkeit-Syndrom | |
| es | Síndrome de fibromatosis gingival-sordera progresiva | Síndrome de Jones · Síndrome de fibromatosis gingival-hipoacusia progresiva |
| it | Fibromatosi gengivale - sordità | Sindrome di Jones |
| nl | Gingivale fibromatose - progressieve doofheid-syndroom | Gingivale fibromatose - progressief gehoorverlies-syndroom · Syndroom van Jones |
| pt | Síndrome de fibromatose gengival-surdez progressiva | Síndrome Jones |
| pl | Włókniakowatość dziąseł - postępująca głuchota | Zespół Jonesa |
| cs | Syndrom zahrnující gingivální fibromatózu a progresivní hluchotu | Jonesův syndrom |
| uk | Синдром фіброматозу ясен - прогресуючої глухоти | Синдром прогресуючої приглухуватості при фіброматозі ясен · Синдром Джонса |
| zh | 牙龈纤维瘤病-进行性耳聋综合征 | 牙龈纤维瘤病-进行性耳聋综合征 |
| tr | Dişeti fibromatozu-ilerleyici sağırlık sendromu | Jones sendromu · Dişeti fibromatozis-ilerleyici işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135550 | E | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0007612 | E | validated | |
| MeSH | C535886 | E | validated | |
| UMLS | C1851112 | E | validated | |
| GARD | 3056 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 4061496[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4061496[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2027
- This record as JSON: /data/d/2027.json