Periodontal Ehlers-Danlos syndrome

Orpha code: 75392OMIM code: 130080

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.

Disease data
Classification

Disease

Synonyms
EDS VIII
Zespół Ehlersa i Danlosa typ okołozębowy
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome, periodontitis type
Periodontal EDS
pEDS
ORPHA code
75392
OMIM code
130080
ICD10 code
Q79.6
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl