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Periodontal Ehlers-Danlos syndrome

Disease 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.

ORPHA:75392

Classification level: Disorder
  • Synonym(s):
    • EDS VIII
    • Ehlers-Danlos syndrome type 8
    • Ehlers-Danlos syndrome, periodontitis type
    • Periodontal EDS
    • pEDS
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q79.6
  • ICD-11: LD28.1Y
  • OMIM: 130080  617174
  • UMLS: C0268347
  • MeSH: C562626
  • GARD: 12474
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Français (2021) Nederlands (2021)

Detailed information

General public

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.