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Spectrum of different syndromes characterized by persistent multiple limb contractures. Often associated with midline dysraphism abnormalities. Distal arthrogryposis type I and Freeman-Sheldon Syndrome (FSS) are the most common forms. Often associated with pharyngeal, cardiac, urologic, and gastric abnormalities.

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  • Distal Arthrogryposis, Type I: Characterized by distal involvement of hands and feet, medially overlapping fingers, clenched fists, camptodactyly, and clubfoot. Neurologic development is normal and Response to physical therapy usually is good.
  • Distal Arthrogryposis Type II: Heterogenous group. Congenital distal joint contractures are associated with numerous other anomalies.

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Varies from 0.3 to 3 cases per 1000 live births. No racial or sexual predilection has been reported (except for cases with X-linked transmission).

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Most cases are sporadic. Type 1 may be autosomal dominant inherited (chromosome 9), but autosomal recessive transmission has been reported. Some syndromes in which arthrogryposis is part of the clinical picture have X-linked transmission. Identical twins often are discordant for the condition, and the intrafamilial phenotype is highly variable.

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The pathogenetic mechanism is a matter of debate. Most likely it is a combination of a central and a peripheral neuromuscular disease. Generalized fetal akinesia seems to be a significant risk factor, which also is favored by oligohydramnios, anomalies of the uterus, and twin pregnancies. Several etiologic theories have been postulated: hormonal, fetal blood supply, neurogenic or myogenic disturbances, toxins (e.g., alcohol or drugs such as phenytoin), and maternal infections (e.g., rubeola, rubella, coxsackievirus, enterovirus). Arthrogryposis is classified into four categories: myopathies, neuropathies, connective tissue disorders, and exogenous effects.

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There are few prenatal ultrasonic findings. The clinical diagnosis usually is made at birth, with the characteristic positioning, internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. Severe equinovarus deformity of the feet usually is present. The face is round (although asymmetry is common) and often associated with a frontal midline capillary hemangioma, flat nasal bridge, and mild micrognathia. Depending on the cause of arthrogryposis, intelligence may be normal. Fetal akinesia may be associated with intrauterine growth retardation, craniofacial anomalies, and hypoplastic lungs. Two thirds of arthrogryposis patients have involvement of all four limbs (usually symmetrically), one fourth of patients have predominant involvement of the lower limbs, and the rest have involvement of mainly the upper limbs.

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Numerous syndromes include at least some aspects of arthrogryposis. In general, the deformities are symmetrical, with increasing severity distally. Hands and feet are affected the most. Radioulnar synostosis and syndactyly may add to the deformities. Contractures and rigidity of the joints are common and may result in joint pterygia and dislocation of the large joints (e.g., hip, knee, shoulders, elbow). Mobility in the temporomandibular joint often is significantly decreased. Spinal canal stenosis, atlantoaxial instability, and/or fusion of cervical vertebrae have been described. Scoliosis is not uncommon and may result in abnormal lung function. Muscle atrophy, absence of muscles, and structural abnormalities of the muscles may ...

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