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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.