Ehlers-Danlos syndrome, periodontitis type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE EDS VIII EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE EDS8 Ehlers-Danlos syndrome type 8 |
| Number of Symptoms | 22 |
| OrphanetNr: | 75392 |
| OMIM Id: |
130080
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| ICD-10: |
Q79.6 |
| 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 dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ehlers-Danlos syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease -Rare systemic or rheumatologic disease Rare disease with odontological manifestation -Rare odontologic disease |
Symptom Information:
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(HPO:0006323) | Premature loss of primary teeth | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0006480) | Premature loss of teeth | 23 / 7739 | ||||
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(HPO:0000704) | Periodontitis | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000592) | Blue sclerae | 85 / 7739 | ||||
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(HPO:0007517) | Palmoplantar cutis laxa | 9 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0001388) | Joint laxity | 117 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0000963) | Thin skin | 96 / 7739 | ||||
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(HPO:0000974) | Hyperextensible skin | Frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
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(HPO:0001058) | Poor wound healing | 9 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(MedDRA:10018290) | Gingival recession | 2 / 7739 | ||||
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(OMIM) | Pretibial pigmented granulomatous plaques | 1 / 7739 | ||||
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(OMIM) | Joint laxity, mild | 4 / 7739 | ||||
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(OMIM) | Marked bruisability | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The Ehlers-Danlos syndromes (EDS) constitute a family of inherited disorders of connective tissue that share the common features of joint hypermobility and skin abnormalities. EDS type VIII is distinguished from other EDS subtypes by severe gingival recession and ... |
| Clinical Description OMIM |
In 1 family, McKusick (1972) observed skin lesions resembling necrobiosis lipoidica diabeticorum in association with periodontal disease leading to early loss of teeth. The skin consisted of symmetrical patches on the front of the shins, about 5 inches ... |