Periodontal Ehlers-Danlos syndrome
Periodontal Ehlers-Danlos syndrome is an autosomal dominant disorder caused by mutations of the C1R and C1S genes. It is characterized by early-onset periodontitis and teeth loss, joint hypermobility, and mild dermatological findings.
In Ehlers-Danlos syndrome periodontitis is accompanied by typical joint and skin abnormalities.
Kapferer-Seebacher I et al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.[^]
OMIM.ORG articleOmim 617174 [^]