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From NCBI Gene:
- Ehlers-Danlos syndrome, type 8
- Complement component c1r/c1s deficiency
Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1): 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. [MIM:130080]