Rienhoff syndrome

Definition:

Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.

References:

[1]. Hugh Young Rienhoff Jr, et al. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A(8):2040-6. [Content Brief]

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