Research Article| Volume 159, ISSUE 2, P347-350, December 2011

Download started.


Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers

  • Jana Midelfart Hoff
    Corresponding author at: Department of Clinical Medicine, Section for Neurology, University of Bergen, Haukeland University Hospital, 5021 Bergen, Norway. Tel.: +47 99427605; fax: +47 55975165.
    Department of Neurology, Haukeland University Hospital, Bergen, Norway

    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Search for articles by this author
  • Maria Loane
    EUROCAT Central Registry, Institute of Nursing Research, University of Ulster, Northern Ireland, United Kingdom
    Search for articles by this author
  • Nils Erik Gilhus
    Department of Neurology, Haukeland University Hospital, Bergen, Norway

    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Search for articles by this author
  • Svein Rasmussen
    Department of Clinical Medicine, University of Bergen, Bergen, Norway

    Department of Obstetrics and Gynaecology, Haukeland University Hospital, Bergen, Norway
    Search for articles by this author
  • Anne Kjersti Daltveit
    Department of Public Health and Primary Health Care, Section for Epidemiology and Medical Statistics, University of Bergen, Bergen, Norway

    Medical Birth Registry of Norway, Norwegian Institute for Public Health, Norway
    Search for articles by this author
Published:October 04, 2011DOI:



      To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors.

      Study design

      Retrospective population-based epidemiological study using EUROCAT congenital anomaly registries. The study population included all cases of AMC (based on WHO ICD-9 or ICD-10 codes) that were livebirths (LB), fetal deaths (FD) from 20 weeks gestation and underwent termination of pregnancy for fetal anomaly (TOPFA), 1980–2006.


      Among 8.9 million births covered by 24 EUROCAT congenital anomaly registries, 757 AMC cases were reported. This gives a prevalence of 8.5 per 100,000. Five hundred and four (67%) AMC cases were LB, 199 (26%) cases were TOPFA, and FD occurred in 54 (7%) cases. First week survival status was known for 381 of the 504 LB (76%), of whom 87 (23%) died within the first week of life. Perinatal mortality associated with AMC was 32%. Two hundred and eighty-two (37%) cases had isolated AMC, 90 (12%) had additional syndrome or chromosomal anomalies and 385 (51%) had other major malformations. The same or similar anomaly was reported in 13% of siblings and in 12% of the mother's own family background. Information on prenatal testing was available for 521 cases of which 360 tested positive for a congenital anomaly, representing a sensitivity of 69%. Information on maternal illness before and during pregnancy and medication use in the first trimester was available for approximately a third of the mothers, of whom the vast majority reported no maternal illness or medication use.


      AMC is a rare occurrence, with a reported prevalence of 1:12,000. In this study, while information on potential risk factors such as maternal disease or maternal use of drugs was limited, they did not appear to be associated with the occurrence of AMC. AMC was lethal in a third of cases, either in utero or during the first week of life, although this may not be solely attributed to AMC as most cases had additional malformations.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


        • Hall J.G.
        Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach and general aspects.
        J Pediatr Orthop B. 1997; 6: 159-166
        • Lowry R.B.
        • Sibbald B.
        • Bedard T.
        • Hall J.G.
        Prevalence of multiple congenital contractures including arthrogryposis multiplex congenital in Alberta, Canada, and a strategy for classification and coding.
        Birth Defects Res A Clin Mol Teratol. 2010; 88: 1057-1061
        • Hall J.G.
        • Vincent A.
        in: Jones H.R. Devivo D.C. Darras B.T. Neuromuscular disorders of infancy, childhood and adolescence. A clinician's approach. Butterworth Heinemann, Philadelphia, PA2003: 123-141
        • Darin N.
        • Kimber E.
        • Kroksmark A.K.
        • Tulinius M.
        Multiple congenital contractures: birth prevalence, etiology, and outcome.
        J Pediatr. 2002; 140: 61-67
        • Bonilla-Musoles F.
        • Machado L.E.
        • Osborne N.G.
        Multiple congenital contractures (congenital multiple arthrogryposis).
        J Perinat Med. 2002; 30: 99-104
        • Banker B.Q.
        Arthrogryposis multiplex congenita: spectrum of pathological changes.
        Hum Pathol. 1986; 17: 656-672
        • Dalton P.
        • Clover L.
        • Wallerstein R.
        • et al.
        Fetal arthrogryposis and maternal serum antibodies.
        Neuromuscul Disord. 2006; 16: 481-491
        • Hoff J.M.
        • Daltveit A.K.
        • Gilhus N.E.
        Arthrogryposis multiplex congenita – a rare fetal condition caused by maternal myasthenia gravis.
        Acta Neurol Scand Suppl. 2006; 183: 26-27
      1. EUROCAT Members Registries.

      2. Barisic I, Garne E, Dolk H. EUROCAT Guide 6. Definition and coding of syndromes; 2004.

      3. EUROCAT Guide 1.3, chapter 3.5 Multiple malformations algorithm:

        • Dolk H.
        EUROCAT: 25 years of European surveillance of congenital anomalies.
        Arch Dis Child Fetal Neonatal Ed. 2005; 90: F355-F358
        • Madazli R.
        • Tüysüz 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 myopathic pathology.
        Fetal Diagn Ther. 2002; 17: 29-33
        • Nakling J.
        • Backe B.
        Routine ultrasound screening and detection of congenital anomalies outside a university setting.
        Acta Obstet Gynecol Scand. 2005; 84: 1042-1048
        • Hall J.G.
        • Reed S.D.
        Teratogens associated with congenital contractures in humans and in animals.
        Teratology. 1982; 25: 173-191
        • Bevan W.P.
        • Hall J.G.
        • Bamshad M.
        • Staheli L.T.
        • Jaffe K.M.
        • Song K.
        Arthrogryposis multiplex congenita (Amyoplasia): an orthopaedic perspective.
        J Pediatr Orthop. 2007; 27: 594-600
        • Naguib K.K.
        • Al-Awadi S.A.
        • Moussa M.A.A.
        • et al.
        Trisomy 18 in Kuwait.
        Int J Epidemiol. 1999; 28: 711-716