Information About Spondylometaphyseal Dysplasia

Spondylometaphyseal dysplasia is a genetic disorder with features similar to those of spondyloepiphyseal dysplasia, including a short trunk, short-limbed dwarfism, near-sightedness, cleft palate, pectus (chest wall) deformities, and lumbar lordosis (swayback). In early childhood, the region beneath the end of the bone (metaphyseal) is irregular and sclerosis (thickening of the bone) is present. There also is flattened vertebral bodies and malformation in the bones that stabilize the connection between the head and neck.



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