Ehlers-Danlos syndrome periodontal type

Definition:

Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.

References:

[1]. Ines Kapferer-Seebacher, et al. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. [Content Brief]

[2]. Ulaş Cıkla, et al. Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). J Neurol Surg Rep. 2014 Dec;75(2):e210-3. [Content Brief]

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