Gingival fibromatosis - facial dysmorphism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 29 |
| OrphanetNr: | 2025 |
| OMIM Id: |
228560
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000232) | Everted lower lip vermilion | 90 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000696) | Delayed eruption of permanent teeth | 12 / 7739 | ||||
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(HPO:0006335) | Persistence of primary teeth | 12 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0009933) | Narrow naris | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0002263) | Exaggerated cupid's bow | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0000169) | Gingival fibromatosis | 14 / 7739 | ||||
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(HPO:0000159) | Abnormality of the lip | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(OMIM) | Broad gums | 1 / 7739 | ||||
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(OMIM) | Hyperkeratotic epithelium with rete ridges extending into the dermis | 1 / 7739 | ||||
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(HPO:0040079) | Irregular dentition | 7 / 7739 | ||||
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(OMIM) | Prominent lips | 7 / 7739 | ||||
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(OMIM) | Cupid bow mouth | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Irregular dentition | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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