Home > Reference Glossary   >  Arthrogryposis


A group of disorders characterized by immobility of the joints present at birth. The condition may be caused by underlying abnormalities of the nervous system, muscles, or connective tissues, or limitations to movement while in the uterus. Arthrogryposis has been described as a feature of numerous syndromes including congenital myasthenia gravis,  perinatal lethal Gaucher disease, and Freeman-Shelton syndrome to name just a few. Some forms affect nearly all of the major joints. Other forms of arthrogryposis may involve primarily the hands and feet (distal arthrogryposis). The course and outcome of the disorder will depend on the underlying cause of the arthrogryposis and normal development of the lungs.

Amyoplasia (Arthrogryposis Multiplex Congenita) accounts for more than 40% of children with arthrogryposis.  Although these infants will require orthopedic and rehabilitative interventions during their childhood, their functional outcome in both physical and educational areas is excellent. The condition is sporadic.

About one-third of children born with arthrogryposis have a severe or lethal form of Pena-Shokeir phenotype or lethal multiple pterygium syndrome. These infants usually do not survive past the neonatal period. Pena-Shokeir and lethal multiple pterygium are often inherited as autosomal recessive traits.

Ultrasound findings may include increased amniotic fluid level, decreased movement, knocked knees, clubfeet, and clubbed hands.

The risk of recurrence is ~ 1% for sporadic cases, 25% if arthrogryposis is associated with an  autosomal recessive cause, 50% if inherited as an autosomal dominant trait, and 50% of males will be affected if inherited as an  X-linked recessive disorder. When the specific diagnosis is unknown, there is a 5 percent chance that another child will be born with the same condition or that an affected adult will have an affected child.

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