Distal arthrogryposis

Definition:

Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers.

References:

[1]. Christina A Gurnett, et al. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. [Content Brief]

[2]. D A Stevenson, et al. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A. 2006 Dec 15;140(24):2797-801. [Content Brief]

[3]. E A Putnam, et al. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet. 1995 Dec;11(4):456-8. [Content Brief]

[4]. Jessica X Chong, et al. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet. 2020 Aug 6;107(2):293-310. [Content Brief]

[5]. Margaret J McMillin, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013 Jan 10;92(1):150-6. [Content Brief]

[6]. Margaret J McMillin, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 1;94(5):734-44. [Content Brief]

[7]. Reha M Toydemir, et al. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. [Content Brief]

[8]. Sandy S Sung, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. [Content Brief]

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