ORPHA:2025
Gingival fibromatosis-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gingival fibromatosis-facial dysmorphism syndrome | |
| fr | Syndrome de fibromatose gingivale-dysmorphie faciale | |
| de | Gingivale Fibromatose-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de fibromatosis gingival-dismorfia facial | |
| it | Fibromatosi gengivale - dismorfismi facciali | |
| nl | Gingivale fibromatose - faciale dysmorfie-syndroom | |
| pt | Síndrome de fibromatose gengival-dismorfia facial | |
| pl | Włókniakowatość dziąseł - dysmorfia twarzy | |
| cs | Syndrom zahrnující gingivální fibromatózu a faciální dysmorfismus | |
| uk | Синдром фіброматозу ясен та дисморфізму обличчя | |
| zh | 牙龈纤维瘤病-面部先天性畸形综合征 | |
| tr | Dişeti fibromatozu-yüz dismorfizmi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228560 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009228 | E | validated | |
| UMLS | C4304501 | E | validated | |
| GARD | 10528 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1493643[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1493643[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.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002263 | Exaggerated cupid's bow | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2025
- This record as JSON: /data/d/2025.json