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Atlas of Genetic Diagnosis and Counseling pp 141–156Cite as

Arthrogryposis Multiplex Congenita

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Arthrogryposis multiplex congenita comprises nonprogressive conditions characterized by multiple joint contractures throughout the body at birth. The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The overall prevalence of arthrogryposis is approximately 1 in 3,000 live births (Hall 1985a, b; Fahy and Hall 1990).

Synonyms and Related Disorders

Amyoplasia; Distal arthrogryposis (distotarlar dysmorphism, Freeman-Sheldon syndrome, Sheldon-Hall syndrome, Gordon syndrome, Hecht syndrome, Beals syndrome)

Genetics/Basic Defects

  1. 1.

    Major causes

    1. a.

      Arthrogryposis as a physical sign observed in many specific clinical conditions

      1. i.

        Single gene defects

      2. ii.

        Chromosomal abnormalities

      3. iii.

        Known or unknown syndromes or conditions

      4. iv.

        Environmental effects

    2. b.

      Fetal akinesia due to fetal abnormalities

      1. i.

        Neurogenic abnormalities: the most common cause of arthrogryposis

        1. a)...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Arthrogryposis Multiplex Congenita. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_16

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