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Definition

A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant.

Acronym

EDSPD1

Synonyms

EDS8
EDS VIII
Ehlers-Danlos syndrome, periodontitis type
Ehlers-Danlos syndrome, periodontosis type
Ehlers-Danlos syndrome, type VIII

Keywords

Ehlers-Danlos syndrome