Arthrogryposis

Last revised by Daniel J Bell on 4 Aug 2022

Arthrogryposis (multiplex congenita) is a clinical or imaging descriptor that denotes congenital non-progressive joint contractures involving two or more body regions. 

Arthrogryposis has been mostly reported in individuals of Asian, African and European descent with equal incidence in males and females 11. It is thought to occur in approximately 1:3000-10,000 live births 6,8.

Arthrogryposis can be associated with numerous syndromic as well as non-syndromic associations; over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression have been found.

Arthrogryposis can result from a number of pathologies. Altered fetal movement (fetal akinesia) is considered a contributor to its pathogenesis. Genetic causes may be present in only 30% of cases.

A lack of fetal movement is considered to be a key feature. Abnormalities are present at birth and are not progressive over time. Fixed contractures and lack of mobility results in poor muscle formation and development in affected regions. 

Antenatal ultrasound may additionally show direct evidence of contractures such as:

and/or indirect features such as:

The prognosis of arthrogryposis is highly variable and is dependent on associated anomalies and severity.

The term arthrogryposis is derived from the Greek words meaning "curved or hooked joints". 

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