Distal arthrogryposis (DA)

Distal arthrogryposis (DA) are a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies, and are transmitted by autosomal dominant inheritance. 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. DA1, DA2A, DA2B, and DA7 are caused by mutations in genes that encode proteins of the contractile apparatus of the fast-twitch myofibers including TNNI2, TNNT3, MYH8, MYH3, and TPM2.

Musculoskeletal disease

(DA1, DA2B) TPM2 [HSA:7169] [KO:K10374]
(DA2B) TNNI2 [HSA:7136] [KO:K12043]
(DA2B) TNNT3 [HSA:7140] [KO:K12046]
(DA2A, DA2B) MYH3 [HSA:4621] [KO:K10352]
(DA7) MYH8 [HSA:4626] [KO:K10352]

PMID:17103435 (description, gene)

Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

Am J Med Genet A 140:2797-801 (2006)

PMID:15930940 (description)

Beals RK

The distal arthrogryposes: a new classification of peripheral contractures.

Clin Orthop Relat Res 203-10 (2005)

PMID:19309503 (description)

Toydemir RM, Bamshad MJ

Sheldon-Hall syndrome.

Orphanet J Rare Dis 4:11 (2009)

PMID:19571066 (description)

Bamshad M, Van Heest AE, Pleasure D

Arthrogryposis: a review and update.

J Bone Joint Surg Am 91 Suppl 4:40-6 (2009)