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Skeletal Dysplasia

/ˌskɛlɪtəl dɪsˈpleɪʒə/noun
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Skeletal dysplasia is a broad category of genetic disorders that disrupt normal bone growth and development, resulting in a wide range of skeletal abnormalities such as short stature or malformed limbs. These conditions often stem from mutations in genes responsible for cartilage and bone formation, and while many are diagnosed at birth or in early childhood, advances in genetics have improved early detection and management in modern medicine.

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