{"orpha":75392,"name":"Periodontal Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDS VIII","Ehlers-Danlos syndrome type 8","Ehlers-Danlos syndrome, periodontitis type","Periodontal EDS","pEDS"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75392/","orphanet_url":"https://www.orpha.net/en/disease/detail/75392","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos parodontal","synonyms":["EDS VIII","SED VIII","SEDp","Syndrome d'Ehlers-Danlos type 8","Syndrome d'Ehlers-Danlos type périodontite"],"definition":"Forme rare du syndrome d'Ehlers-Danlos caractérisée par l'apparition, pendant l'enfance ou l'adolescence, d'une parodontite sévère réfractaire, par l'absence de gencive attachée et par la présence de plaques prétibiales. Les autres manifestations sont une tendance aux ecchymoses, une hypermobilité (principalement des articulations distales), une hyperextensibilité et une fragilité cutanées, une cicatrisation anormale, des infections récurrentes, des hernies, des caractéristiques faciales marfanoïdes, une acrogérie et des veines proéminentes."},"de":{"name":"Ehlers-Danlos-Syndrom, parodontaler Typ","synonyms":["EDS VIII","EDS, Parodontitis Typ","Ehlers-Danlos-Syndrom Typ 8","pEDS"],"definition":"Eine seltene Form des Ehlers-Danlos-Syndroms, die durch eine im Kindes- oder Jugendalter beginnende schwere, hartnäckige Parodontitis, fehlende Gingiva und das Vorhandensein von Plaques vor dem Schienbein gekennzeichnet ist. Weitere Symptome sind leichte Blutergüsse, Hypermobilität vor allem der distalen Gelenke, Überdehnbarkeit und Zerbrechlichkeit der Haut, abnorme Narbenbildung, wiederkehrende Infektionen, Hernien, marfanoide Gesichtszüge, Akrogerie und ein ausgeprägtes Gefäßsystem."},"es":{"name":"Síndrome de Ehlers-Danlos periodontal","synonyms":["SED VIII","SED periodontal","Síndrome de Ehlers-Danlos tipo 8","Síndrome de Ehlers-Danlos tipo periodontitis"],"definition":"Es una forma poco frecuente del síndrome de Ehlers-Danlos caracterizada por la aparición en la infancia o la adolescencia de periodontitis grave e intratable, falta de adherencia gingival y presencia de placas pretibiales. Otras manifestaciones son: propensión a los hematomas, hipermovilidad principalmente de las articulaciones distales, hiperextensibilidad y fragilidad de la piel, cicatrices anómalas, infecciones recurrentes, hernias, rasgos faciales marfanoides, acrogeria y patrón venoso prominente."},"it":{"name":"Sindrome di Ehlers-Danlos periodontica","synonyms":["EDS VIII","EDS periodontica","Sindrome di Ehlers-Danlos, tipo 8","Sindrome di Ehlers-Danlos, tipo periodontite","pEDS"],"definition":"Si tratta di una forma rara della sindrome di Ehlers-Danlos, che esordisce nell'infanzia o nell'adolescenza con parodontite grave e non trattabile, assenza di gengiva e placche pretibiali. I pazienti possono presentare anche tendenza alle ecchimosi, ipermobilità articolare (soprattutto delle articolazioni distali), cute iperelastica e fragile, cicatrici anomale, infezioni ricorrenti, ernie, aspetto marfanoide del viso, acrogeria e marcata vascolarizzazione."},"nl":{"name":"Parodontaal syndroom van Ehlers-Danlos","synonyms":["EDS VIII","Parodontaal EDS","Syndroom van Ehlers-Danlos type 8","Syndroom van Ehlers-Danlos, parodontitis-type","pEDS"],"definition":"Een zeldzaam type van syndroom van Ehlers-Danlos, gekenmerkt door in de kindertijd of adolescentie optredende, ernstige refractaire parodontitis, gebrek aan aangehechte gingiva, en aanwezigheid van pretibiale plaques. Bijkomende manifestaties zijn gevoeligheid voor kneuzing, hypermobiliteit van hoofdzakelijk distale gewrichten, hyperextensibiliteit en fragiliteit van huid, abnormale littekenvorming, recidiverende infecties, hernia's, marfanoïde gelaatskenmerken, acrogerie, en prominente vasculatuur."},"pt":{"name":"Síndrome Ehlers-Danlos periodontal","synonyms":["EDS VIII","EDS periodontal","Síndrome Ehlers-Danlos tipo 8","Síndrome Ehlers-Danlos, tipo periondontite"]},"pl":{"name":"Zespół Ehlersa i Danlosa, typ zapalenia przyzębia","synonyms":["Zespół Ehlersa i Danlosa typ okołozębowy"]},"cs":{"name":"Ehlersův-Danlosův syndrom, periodontitický typ","synonyms":["EDS VIII","Ehlersův-Danlosův syndrom, typ 8","Ehlers-Danlosův syndrom, periodontitický typ","Ehlers-Danlosův syndrom, typ 8"]},"uk":{"name":"Пародонтальний синдром Елерса-Данлоса","synonyms":["EDS VIII","Синдром Елерса-Данлоса, тип 8","Синдром Елерса-Данлоса, тип пародонтиту","pEDS","Пародонтальний ЕДС"],"definition":"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."},"zh":{"name":"牙周病型Ehlers-Danlos综合征","synonyms":["Ehlers-Danlos综合征，牙周炎型"]},"tr":{"name":"Periodontal Ehlers-Danlos sendromu","synonyms":["pED'ler","EDS VIII","Ehlers-Danlos sendromu tip 8","Ehlers-Danlos sendromu, periodontitis tipi"]}},"xrefs":[{"source":"OMIM","code":"130080","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617174","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"893527307"},{"source":"MONDO","code":"0007527","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268347","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"C1R","name":"complement C1r","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27745832[PMID]","hgnc":"1246","ensembl":"ENSG00000159403","omim":"613785","loci":["12p13.31"]},{"symbol":"C1S","name":"complement C1s","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27745832[PMID]","hgnc":"1247","ensembl":"ENSG00000182326","omim":"120580","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":62.0,"area":"Worldwide","status":"Validated","source":"22739343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-04-13","source":"37323685[PMID]_34324282[PMID]_35833531[PMID]_33005042[PMID]_41489249[PMID]_28306229[PMID]","terms":[{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034517","label":"Pretibial hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006349","label":"Agenesis of permanent teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006308","label":"Atrophy of alveolar ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030816","label":"Gingival recession","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040221","label":"Hypoplasia of the dental root","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003771","label":"Pulp calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020152","label":"Distal joint hypermobility","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002415","label":"Leukodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007394","label":"Prominent superficial blood vessels","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Very rare (<4-1%)","criteria":null}]}}