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Metatrophic dwarfism is characterized by abnormal skeletal development. Infants typically present with a long trunk with disproportionately short extremities. Length is usually normal. The chest may be narrow and a tail-like appendage may be present at the level of the coccyx (tailbone). The joints are prominent with decreased mobility. The fingers and toes are long. The proportions change during childhood with relative shortening of the trunk due to progressive kyphosis and relatively long extremities. Chest deformity and flexion contractures of major joints is common. Hyperextensibility of the fingers may also be present. Intellectual development is usually normal.
Radiologic features include severe platyspondyly (flattened bones of the spine), severe metaphyseal enlargement, and shortening of the long bones.
Individuals affected by metatropic dwarfism may benefit from genetic counseling. Information about how to locate a genetics professional can be found within the Services section on the resources page.
Treatment of metatropic dwarfism is symptomatic and supportive. Physiotherapy and occupational therapy can help with prevention of progressive joint disease. Bracing may be used for kyphosis with adjustment and/or replacement as the child grows. This type of treatment should be maintained until skeletal maturity is reached or until spinal fusion is feasible. Spinal fusion is used to prevent damage to the cervical part of the spinal cord.