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Arthrogryposis
Medical expert of the article
Last reviewed: 04.07.2025
All congenital diseases and syndromes associated with joint stiffness have traditionally been united by one term - arthrogryposis, or multiple congenital contracture syndrome. The appearance of patients is so typical that diagnosis is not difficult. However, the term "arthrogryposis" itself has not yet been clearly defined.
Arthrogryposis is a heterogeneous group of diseases characterized by congenital contractures in two or more joints in combination with muscle hypo- or atrophy, with signs of damage to the motor neurons of the spinal cord.
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[ What causes arthrogryposis?
Currently, there are five theories of the origin of arthrogryposis: mechanical, infectious, hereditary, myogenic and neurogenic.
Symptoms of Arthrogryposis
In patients with arthrogryposis, contractures are always congenital and are combined with muscle hypotrophy or atrophy. Lesions are usually symmetrical, there is no progression after the birth of the child, but with age, relapse of deformities is possible. The limbs are predominantly affected, in rare cases (in total forms) pathological changes extend to the spine and trunk muscles. In most patients, the upper and lower limbs are involved in the process. When the upper limbs are affected, intrarotational-adductive contractures in the shoulder joints, extension contractures in the elbow joints, flexion contractures in the wrist joints in combination with ulnar deviation of the hand and flexion-adductive contracture of the first finger are most often noted.
Isolated lesions of the lower extremities are more common than those of the upper extremities. In this case, external rotation-abduction or flexion-adduction contractures are detected in the hip joints with or without hip dislocation, flexion or extension contractures in the knee joints of varying severity, equinovarus or flat-valgus foot deformity.
In children with the classical form of arthrogryposis, among the rarer lesions, there are amniotic bands, cutaneous syndactyly of the fingers, retractions of the skin over the affected joints, pterygium in the shoulder, elbow, knee joints, vascular changes in the form of telangiectasias and hemangiomas of various localizations. Systemic damage to internal organs is usually absent. However, patients with arthrogryposis are prone to frequent respiratory diseases. The intellect of patients with arthrogryposis is preserved.
A separate group includes distal forms of arthrogryposis with characteristic signs - congenital contractures and deformations of the hands and feet, facial anomalies and hereditary nature of the disease transmission. There are 9 forms of distal arthrogryposis according to the Bamshad classification (digitotalar dysmorphism, Freeman-Sheldon syndrome, Gordon syndrome, trismus pseudocamptodactyly, pterygium syndrome, congenital arachnodactyly, etc.).
To develop tactics for orthopedic surgical treatment of patients, a classification of arthrogryposis has been created, which includes the following characteristics:
- type of arthrogryposis - classic and distal;
- prevalence - local form (with damage to only the upper or lower limbs), generalized (with damage to the upper and lower limbs), total (with damage to the upper, lower limbs, spine);
- localization - upper limbs (shoulder, elbow, wrist joints, fingers), lower limbs (hip, knee, ankle joints, feet);
- type of contractures - flexion, extension, abduction, adduction, rotation and their combination;
- severity of contractures - mild, moderate and severe (depending on the severity of contractures, passive range of motion in the joint and muscle strength).
Screening for arthrogryposis
Prenatal diagnosis of arthrogryposis is very important. It is necessary to conduct ultrasound examination of pregnant women during critical periods of embryo development. Diagnosis of arthrogryposis is based on monitoring fetal mobility, identifying contractures and joint deformations, and a decrease in the volume of soft tissues of the limbs.
Diagnosis of arthrogryposis
To diagnose and develop a treatment plan for a patient with arthrogryposis, clinical, neurological, electrophysiological, radiological, and ultrasound examination methods are used.
Differential diagnostics
Differential diagnosis should be carried out with other systemic and neuromuscular diseases, such as Larsen syndrome, diastrophic dysplasia, chondrodystrophy, Ehlers-Danlos syndrome, spinal amyotrophy, peripheral neuropathies, myopathies, myotonic dystrophy, etc.
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Treatment of arthrogryposis
Non-drug treatment of arthrogryposis
Conservative treatment should be started immediately after the birth of the child, since the result of correction obtained in the first months of life is the most stable. Staged plaster corrections are performed weekly, taking into account the somatic condition of the child. Before each stage of correction, therapeutic exercise is used, aimed at increasing the range of motion in the joints with simultaneous correction of the deformation, thermal and physiotherapy procedures. Parents are taught corrective exercises and positions to eliminate contractures and deformations in the joints of the upper and lower extremities, since they must be performed 6-8 times a day. All patients with arthrogryposis are provided with orthotic products after correction.
Among the physiotherapeutic procedures for improving the function and trophism of the neuromuscular system, ossification of bone structures and combating osteoporosis, photochromotherapy is used, both with stimulating and relaxing colors, electrophoresis with pentoxifylline (trental) or aminophylline (euphyllin), neostigmine methyl sulfate (proserin), ascorbic acid, calcium, phosphorus, sulfur, magnetic pulse and electrical stimulation, phonophoresis with bischofite, contractubex gel.
Orthopedic treatment is supplemented by neurological treatment, which is carried out in courses 3-4 times a year, and includes agents that improve conductivity, blood circulation and tissue trophism.
Surgical treatment of arthrogryposis
If conservative treatment is ineffective, surgical correction of joint contractures is performed from the age of 3-4 months, especially on the lower limbs. Surgical treatment of children with arthrogryposis at an older age is performed taking into account the developed self-care skills and muscle preservation. Otherwise, the treatment results may be negative and lead to even greater disability of the child.
Further management
Children diagnosed with arthrogryposis are under dispensary observation (examination once every 3-6 months). Rehabilitation treatment is carried out constantly, including sanatorium and resort treatment twice a year. Children with arthrogryposis are provided with orthotic products. Social adaptation is carried out in specialized educational and rehabilitation centers for children with orthopedic pathology.