The leg muscles are usually hypoplastic, and the limbs tend to be tubular and featureless. Soft tissue webbing sometimes occurs over the ventral aspects of the flexed joints. The spine may be scoliotic. Apart from slenderness of the long bones, the skeleton is radiographically normal. Physical handicaps may be severe.
Intelligence is usually unimpaired or mildly abnormal.
Other abnormalities occurring together with arthrogryposis include microcephaly, cleft palate, cryptorchidism, and cardiac and urinary tract anomalies. Diagnosis, Prognosis, and Treatment A thorough assessment should be made for any associated malformations. Electromyography and muscle biopsy are useful to diagnose neuropathic and myopathic disorders. Muscle biopsy shows amyoplasia, with fatty and fibrous replacement of tissues. Early orthopedic and physical therapy evaluations are indicated.