Arthrogryposis

© 2014 Elsevier Inc. All rights reserved. Arthrogryposis (arthrogryposis multiplex congenita) is the descriptive term used to describe multiple congenital contractures in newborns. All types of arthrogryposis are associated with decreased fetal movement, which can usually be recognized by lack of normal movement in utero using real-time ultrasound studies. Arthrogryposis represents a clinical phenotype associated with over 400 specific known conditions, and the differential diagnosis is complex. Over 130 genes have been found to be responsible for congenital contractures, so very specific diagnoses can be made. Some maternal and environmental conditions may predispose to arthrogryposis, but in many cases the cause is less clear. A practical approach is to divide the various conditions into those primarily affecting limbs, those that affect the limbs together with other body areas, and those that are lethal and/or have CNS dysfunction. This chapter describes the diversity of the phenotypes and provides practical recommendations for diagnosis and treatment.