ORPHA:75392
Periodontal Ehlers-Danlos syndrome
Synonyms: EDS VIII · Ehlers-Danlos syndrome type 8 · Ehlers-Danlos syndrome, periodontitis type · Periodontal EDS · pEDS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periodontal Ehlers-Danlos syndrome | EDS VIII · Ehlers-Danlos syndrome type 8 · Ehlers-Danlos syndrome, periodontitis type · Periodontal EDS · pEDS |
| fr | Syndrome d'Ehlers-Danlos parodontal | EDS VIII · SED VIII · SEDp · Syndrome d'Ehlers-Danlos type 8 · Syndrome d'Ehlers-Danlos type périodontite |
| de | Ehlers-Danlos-Syndrom, parodontaler Typ | EDS VIII · EDS, Parodontitis Typ · Ehlers-Danlos-Syndrom Typ 8 · pEDS |
| es | Síndrome de Ehlers-Danlos periodontal | SED VIII · SED periodontal · Síndrome de Ehlers-Danlos tipo 8 · Síndrome de Ehlers-Danlos tipo periodontitis |
| it | Sindrome di Ehlers-Danlos periodontica | EDS VIII · EDS periodontica · Sindrome di Ehlers-Danlos, tipo 8 · Sindrome di Ehlers-Danlos, tipo periodontite · pEDS |
| nl | Parodontaal syndroom van Ehlers-Danlos | EDS VIII · Parodontaal EDS · Syndroom van Ehlers-Danlos type 8 · Syndroom van Ehlers-Danlos, parodontitis-type · pEDS |
| pt | Síndrome Ehlers-Danlos periodontal | EDS VIII · EDS periodontal · Síndrome Ehlers-Danlos tipo 8 · Síndrome Ehlers-Danlos, tipo periondontite |
| pl | Zespół Ehlersa i Danlosa, typ zapalenia przyzębia | Zespół Ehlersa i Danlosa typ okołozębowy |
| cs | Ehlersův-Danlosův syndrom, periodontitický typ | EDS VIII · Ehlersův-Danlosův syndrom, typ 8 · Ehlers-Danlosův syndrom, periodontitický typ · Ehlers-Danlosův syndrom, typ 8 |
| uk | Пародонтальний синдром Елерса-Данлоса | EDS VIII · Синдром Елерса-Данлоса, тип 8 · Синдром Елерса-Данлоса, тип пародонтиту · pEDS · Пародонтальний ЕДС |
| zh | 牙周病型Ehlers-Danlos综合征 | Ehlers-Danlos综合征，牙周炎型 |
| tr | Periodontal Ehlers-Danlos sendromu | pED'ler · EDS VIII · Ehlers-Danlos sendromu tip 8 · Ehlers-Danlos sendromu, periodontitis tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130080 | E | validated | |
| OMIM | 617174 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0007527 | E | validated | |
| MeSH | C562626 | E | validated | |
| UMLS | C0268347 | E | validated | |
| GARD | 12474 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C1R | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1246 | ENSG00000159403 | 613785 | 12p13.31 | complement C1r | 27745832[PMID] |
| C1S | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1247 | ENSG00000182326 | 120580 | 12p13.31 | complement C1s | 27745832[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 62 cases | Worldwide | Case(s) | Validated | 22739343[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
32 annotations · validated 2026-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000978 | Bruising susceptibility | Diagnostic criterion |
| HP:0025474 | Erythematous plaque | Diagnostic criterion |
| HP:0034517 | Pretibial hyperpigmentation | Diagnostic criterion |
| HP:0000166 | Severe periodontitis | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0000739 | Anxiety | |
| HP:0001075 | Atrophic scars | Diagnostic criterion |
| HP:0006308 | Atrophy of alveolar ridges | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001030 | Fragile skin | Diagnostic criterion |
| HP:0030816 | Gingival recession | |
| HP:0002315 | Headache | |
| HP:0001609 | Hoarse voice | |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0040221 | Hypoplasia of the dental root | |
| HP:0001382 | Joint hypermobility | |
| HP:0000691 | Microdontia | |
| HP:0001058 | Poor wound healing | |
| HP:0003771 | Pulp calcification | |
| HP:0002719 | Recurrent infections | Diagnostic criterion |
| HP:0000963 | Thin skin | |
| HP:0002619 | Varicose veins | |
| Occasional (29-5%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000716 | Depression | |
| HP:0020152 | Distal joint hypermobility | Diagnostic criterion |
| HP:0100790 | Hernia | Diagnostic criterion |
| HP:0001373 | Joint dislocation | |
| HP:0002415 | Leukodystrophy | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0007394 | Prominent superficial blood vessels | Diagnostic criterion |
| HP:0000679 | Taurodontia | |
| Very rare (<4-1%) | ||
| HP:0005294 | Arterial dissection | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 37323685[PMID]_34324282[PMID]_35833531[PMID]_33005042[PMID]_41489249[PMID]_28306229[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75392
- This record as JSON: /data/d/75392.json