arthrogryposis

Summary

Summary: Persistent flexure or contracture of a joint. 

Top Publications

  1. Robinson P, Lipscomb S, Preston L, Altin E, Watkins H, Ashley C, et al. Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J. 2007;21:896-905 pubmed
    ..We propose the mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities...
  2. Krakowiak P, O Quinn J, Bohnsack J, Watkins W, Carey J, Jorde L, et al. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet. 1997;60:426-32 pubmed
    Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures...
  3. Gurnett C, Desruisseau D, McCall K, Choi R, Meyer Z, Talerico M, et al. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010;19:1165-73 pubmed publisher
    Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few genes have been identified...
  4. Murphy A, MacHugh D, Park S, Scraggs E, Haley C, Lynn D, et al. Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5. Mamm Genome. 2007;18:43-52 pubmed
    b>Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance...
  5. McPherson E, Zabel C. Mitochondrial mutation in a child with distal arthrogryposis. Am J Med Genet A. 2006;140:184-5 pubmed
    ..A younger brother had similar distal arthrogryposis, but normal height and weight and no history of stroke though he had been diagnosed with attention deficit...
  6. Jiang M, Bian C, Li X, Man X, Ge W, Han W, et al. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. Prenat Diagn. 2007;27:468-70 pubmed
    ..TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B)...
  7. Morcuende J, Dobbs M, Frick S. Results of the Ponseti method in patients with clubfoot associated with arthrogryposis. Iowa Orthop J. 2008;28:22-6 pubmed
    Clubfoot associated with arthrogryposis has been traditionally considered very resistant to manipulation and casting, and therefore has required surgical correction...
  8. Thomas J, Chiu Yeh M, Moriconi E. Maxillofacial implications and surgical treatment of arthrogryposis multiplex congenita. Compend Contin Educ Dent. 2001;22:588-92 pubmed
    A case of arthrogryposis multiplex congenita that affected a patient's temporomandibular joint is described. Preoperatively, the patient's interincisal opening was limited to 9 mm...
  9. Beals R, Weleber R. Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. Am J Med Genet A. 2004;131:67-70 pubmed
    A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family...

More Information

Publications62

  1. Rink B. Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynecol Surv. 2011;66:369-77 pubmed publisher
    Congenital contractures are a common ultrasound finding. Arthrogryposis, defined as multiple contractures involving more than one area of the body, is not a specific diagnosis but rather a description of clinical findings...
  2. Gissen P, Johnson C, Morgan N, Stapelbroek J, Forshew T, Cooper W, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004;36:400-4 pubmed
    ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl ..
  3. Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, et al. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. Eur J Med Genet. 2011;54:351-3 pubmed publisher
    Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the limb joints...
  4. Arhan E, Yusufoğlu A, Sayli T. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr. 2009;168:995-8 pubmed publisher
    b>Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B whose product acts in intracellular trafficking...
  5. Toydemir R, Bamshad M. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009;4:11 pubmed publisher
    ..The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome)...
  6. Philpot J, Counsell S, Bydder G, Sewry C, Dubowitz V, Muntoni F. Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?. Neuromuscul Disord. 2001;11:489-93 pubmed
    We describe a child who presented at birth with arthrogryposis. Following a muscle biopsy a diagnosis of congenital muscular dystrophy was made and a skin biopsy 12 years later confirmed the presence of merosin...
  7. Nguyen N, Morvant E, Mayhew J. Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports. J Clin Anesth. 2000;12:227-30 pubmed
    b>Arthrogryposis multiplex congenita (AMC) is a spectrum syndrome of multiple persistent limb contractures often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects...
  8. Zori R, Gardner J, Zhang J, Mullan M, Shah R, Osborn A, et al. Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. Am J Med Genet. 1998;78:450-4 pubmed
    b>Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause...
  9. Rienhoff H, Yeo C, Morissette R, Khrebtukova I, Melnick J, Luo S, 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;161A:2040-6 pubmed publisher
    ..We described a syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, a failure of normal post-natal muscle development but no evidence of vascular disease;..
  10. Van Bosse H, Feldman D, Anavian J, Sala D. Treatment of knee flexion contractures in patients with arthrogryposis. J Pediatr Orthop. 2007;27:930-7 pubmed publisher
    Knee flexion contractures in children with arthrogryposis are difficult to treat...
  11. Kimber E, Tajsharghi H, Kroksmark A, Oldfors A, Tulinius M. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology. 2006;67:597-601 pubmed
    To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2.
  12. Yapicioglu H, Ozcan K, Arikan O, Satar M, Narli N, Ozbek M. Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita. Ann Trop Paediatr. 2009;29:159-62 pubmed publisher
    Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. In some patients, mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23-q24) have been demonstrated. A male newborn with Bruck syndrome is reported.
  13. Bamshad M, Van Heest A, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91 Suppl 4:40-6 pubmed publisher
  14. Genini S, Nguyen T, Malek M, Talbot R, Gebert S, Rohrer G, et al. Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5. Anim Genet. 2006;37:239-44 pubmed
    ..and USP18) are located on porcine chromosome 5 (SSC5) and represent positional and functional candidates for arthrogryposis multiplex congenita (AMC), which maps to SSC5...
  15. Coste B, Houge G, Murray M, Stitziel N, Bandell M, Giovanni M, et al. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013;110:4667-72 pubmed publisher
    ..Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive ..
  16. Coelho K, Sarmento M, Veiga C, Speck Martins C, Safatle H, Castro C, et al. Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 2000;95:297-301 pubmed
    We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis. All 15 patients had growth retardation, underdeveloped bones, short feet with equinovarus, rigidity of several joints with skin dimples and ..
  17. Bernstein R. Arthrogryposis and amyoplasia. J Am Acad Orthop Surg. 2002;10:417-24 pubmed
    b>Arthrogryposis (multiple congenital joint contractures) is an uncommon problem. Because there are many causes, correct diagnosis is important to predict the natural history and determine appropriate treatment...
  18. Sung S, Brassington A, Grannatt K, Rutherford A, Whitby F, Krakowiak P, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003;72:681-90 pubmed
    ..This provides a new opportunity to directly study the etiology and pathogenesis of multiple-congenital-contracture syndromes...
  19. Sung S, Brassington A, Krakowiak P, Carey J, Jorde L, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003;73:212-4 pubmed
  20. Stevenson D, Swoboda K, Sanders R, Bamshad M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A. 2006;140:2797-801 pubmed
    The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas...
  21. Kimber E, Tajsharghi H, Kroksmark A, Oldfors A, Tulinius M. Distal arthrogryposis: clinical and genetic findings. Acta Paediatr. 2012;101:877-87 pubmed publisher
    Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis...
  22. Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009;18:3462-9 pubmed publisher
    b>Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital joint contractures caused by reduced fetal movements. AMC has an incidence of 1 in 3000 newborns and is genetically heterogeneous...
  23. Holden S, Ahuja S, Ogilvy Stuart A, Firth H, Lees C. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenat Diagn. 2007;27:566-7 pubmed
    ..A prenatal finding of distal arthrogryposis can therefore include harlequin icthyosis as a differential diagnosis, where 3D ultrasound may then disclose ..
  24. Komatsu T, Hashimoto Y, Sakanaka H, Gotani H, Yamano Y. Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report. Knee Surg Sports Traumatol Arthrosc. 2007;15:424-6 pubmed
    ..had a history of windblown hand and clubfoot, and bilateral discoid medial meniscus was associated with distal arthrogryposis. There has been no previous case report about the coexistence of meniscal abnormalities and distal ..
  25. Chieza J, Fleming I, Parry N, Skelton V. Maternal myasthenia gravis complicated by fetal arthrogryposis multiplex congenita. Int J Obstet Anesth. 2011;20:79-82 pubmed publisher
    ..Despite this, the fetus had arthrogryposis multiplex congenita due to trans-placental transfer of anti-acetylcholine receptor antibodies...
  26. Krakowiak P, Bohnsack J, Carey J, Bamshad M. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet. 1998;76:93-8 pubmed
    We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less ..
  27. Dalton P, Clover L, Wallerstein R, Stewart H, Genzel Boroviczeny O, Dean A, et al. Fetal arthrogryposis and maternal serum antibodies. Neuromuscul Disord. 2006;16:481-91 pubmed
    b>Arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack of movement in utero...
  28. Boehm S, Limpaphayom N, Alaee F, Sinclair M, Dobbs M. Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. J Bone Joint Surg Am. 2008;90:1501-7 pubmed publisher
    ..The purpose of the present study was to evaluate the early results of the Ponseti method when used for the treatment of clubfoot associated with distal arthrogryposis.
  29. Spencer H, Bowen R, Caputo K, Green T, Lawrence J. Bone mineral density and functional measures in patients with arthrogryposis. J Pediatr Orthop. 2010;30:514-8 pubmed publisher
    Patients with arthrogryposis often report decreased ambulation and physical activity...
  30. Agerholm J, Bendixen C, Andersen O, Arnbjerg J. Complex vertebral malformation in holstein calves. J Vet Diagn Invest. 2001;13:283-9 pubmed
    ..Similar low-grade arthrogryposis was present in the posterior limbs. Fifty percent of the calves had heart malformation...
  31. Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet. 2013;92:681-95 pubmed publisher
    b>Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia...
  32. Taricco L, Aoki S. Rehabilitation of an adult patient with arthrogryposis multiplex congenita treated with an external fixator. Am J Phys Med Rehabil. 2009;88:431-4 pubmed publisher
    b>Arthrogryposis is a term used to describe the presence of multiple joint contractures that are present at birth. Reports that describe the experience of a rehabilitation program for adult patients with arthrogryposis are rare...
  33. Cullinane A, Straatman Iwanowska A, Zaucker A, Wakabayashi Y, Bruce C, Luo G, et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet. 2010;42:303-12 pubmed publisher
    b>Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC...
  34. Beck A, McMillin M, Gildersleeve H, Kezele P, Shively K, Carey J, et al. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013;161A:550-5 pubmed publisher
    The distal arthrogryposis (DA) syndromes are a group of disorders characterized by non-progressive congenital contractures of the limbs...
  35. Tajsharghi H, Kimber E, Kroksmark A, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008;65:1083-90 pubmed publisher
    ..with congenital joint contractures, that is, Freeman-Sheldon and Sheldon-Hall syndromes, which are both distal arthrogryposis syndromes. Mutations in other MyHC isoforms cause myopathy...
  36. Tsuda T, Yoshida K, Ohashi S, Yanase T, Sueyoshi M, Kamimura S, et al. Arthrogryposis, hydranencephaly and cerebellar hypoplasia syndrome in neonatal calves resulting from intrauterine infection with Aino virus. Vet Res. 2004;35:531-8 pubmed
    ..e., less than the standard gestation term; they had congenital abnormalities including arthrogryposis, hydranencephaly and cerebellar hypoplasia...
  37. McMillin M, Below J, Shively K, Beck A, Gildersleeve H, Pinner J, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013;92:150-6 pubmed publisher
    Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ~50% of cases are caused by mutations in genes that encode contractile proteins of skeletal myofibers...
  38. Goksen D, Darcan S, Coker M, Aksu G, Yildiz B, Kara S, et al. Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?. Pediatr Diabetes. 2006;7:279-83 pubmed
    ..She was diagnosed as having arthrogryposis multiplex congenita on the first day...
  39. Kelley B, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26:666-72 pubmed publisher
    ..Therefore, we conclude that FKBP10 mutations are a cause of recessive osteogenesis imperfecta and Bruck syndrome, possibly Bruck syndrome Type 1 since the location on chromosome 17 has not been definitely localized...
  40. Hall J, Reed S, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. 1982;11:185-239 pubmed
    ..Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal ..
  41. Hoff J, Loane M, Gilhus N, Rasmussen S, Daltveit A. Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers. Eur J Obstet Gynecol Reprod Biol. 2011;159:347-50 pubmed publisher
    To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors.
  42. Cullinane A, Straatman Iwanowska A, Seo J, Ko J, Song K, Gizewska M, et al. Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat. 2009;30:E330-7 pubmed publisher
    b>Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B...
  43. Hershkovitz D, Mandel H, Ishida Yamamoto A, Chefetz I, Hino B, Luder A, et al. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol. 2008;144:334-40 pubmed publisher
    b>Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is a rare and usually fatal metabolic autosomal recessive disorder, which has recently been shown to result from mutations in VPS33B located on chromosome 15q26.1...
  44. Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, et al. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet. 2006;120:238-42 pubmed
    Distal arthrogryposis (DA) is composed of a group of clinically and genetically heterogeneous disorders, characterized by multiple congenital contractures of the limbs...
  45. Martin S, Tobias J. Perioperative care of the child with arthrogryposis. Paediatr Anaesth. 2006;16:31-7 pubmed
    b>Arthrogryposis multiplex congenita (AMC) is a congenital symptom complex characterized by multiple joint contractures...
  46. Madazli R, Tuysuz B, Aksoy F, Barbaros M, Uludag S, Ocak V. Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology. Fetal Diagn Ther. 2002;17:29-33 pubmed
    b>Arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable...
  47. Jacobson L, Polizzi A, Morriss Kay G, Vincent A. Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. J Clin Invest. 1999;103:1031-8 pubmed
    b>Arthrogryposis multiplex congenita (AMC) is characterized by fixed joint contractures and other deformities, sometimes resulting in fetal death...
  48. Bevan W, Hall J, Bamshad M, Staheli L, Jaffe K, SONG K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. 2007;27:594-600 pubmed
  49. Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, et al. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol. 2007;581:1283-92 pubmed
  50. Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neurology. 2007;68:772-5 pubmed
    ..We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM...
  51. Shrimpton A, Hoo J. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet. 2006;49:201-6 pubmed
    Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13...
  52. Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin J, et al. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J Clin Invest. 2001;108:125-30 pubmed
    Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement...
  53. Edwards J, Livingston C, Chung S, Collisson E. Ovine arthrogryposis and central nervous system malformations associated with in utero Cache Valley virus infection: spontaneous disease. Vet Pathol. 1989;26:33-9 pubmed
    Gross appearance and histologic lesions seen in 15 newborn lambs in an outbreak of congenital arthrogryposis with hydrocephalus or hydranencephaly (CAH) in Texas are described...