Freeman-Sheldon syndrome
Sheldon-Hall syndrome
Trismus-pseudocamptodactyly syndrome [DS:H00872]
Congenital contractural arachnodactyly [DS:H00660]

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)
DOI:10.1002/ajmg.a.31528

Beals RK

The distal arthrogryposes: a new classification of peripheral contractures.

Clin Orthop Relat Res 203-10 (2005)

Toydemir RM, Bamshad MJ

Sheldon-Hall syndrome.

Orphanet J Rare Dis 4:11 (2009)
DOI:10.1186/1750-1172-4-11

Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Am J Hum Genet 72:681-90 (2003)
DOI:10.1086/368294

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Hum Mol Genet 19:1165-73 (2010)
DOI:10.1093/hmg/ddp587

Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML, Amacher SL, Bamshad MJ

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 107:293-310 (2020)
DOI:10.1016/j.ajhg.2020.06.014

Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

Am J Hum Genet 73:212-4 (2003)
DOI:10.1086/376418

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Nat Genet 38:561-5 (2006)
DOI:10.1038/ng1775

Li S, You Y, Gao J, Mao B, Cao Y, Zhao X, Zhang X

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

BMC Med Genet 19:179 (2018)
DOI:10.1186/s12881-018-0692-8

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Am J Hum Genet 94:734-44 (2014)
DOI:10.1016/j.ajhg.2014.03.015

McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Am J Hum Genet 92:150-6 (2013)
DOI:10.1016/j.ajhg.2012.11.014

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Am J Med Genet A 140:2387-93 (2006)
DOI:10.1002/ajmg.a.31495

Putnam EA, Zhang H, Ramirez F, Milewicz DM

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.

Nat Genet 11:456-8 (1995)
DOI:10.1038/ng1295-456

Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P

MET mutation causes muscular dysplasia and arthrogryposis.

EMBO Mol Med 11:emmm.201809709 (2019)
DOI:10.15252/emmm.201809709

Boschann F, Cogulu MO, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hagerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Genet Med 24:2187-2193 (2022)
DOI:10.1016/j.gim.2022.07.012