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SHOX Deficiency

Meaning

SHOX Deficiency is a genetic disorder characterized by haploinsufficiency of the Short Stature Homeobox (SHOX) gene, meaning one of the two functional gene copies on the X and Y chromosomes is either absent or mutated, resulting in insufficient protein production. This condition is a well-established cause of short stature, often accompanied by skeletal abnormalities like mesomelia and Madelung deformity. Early identification is crucial for optimizing therapeutic outcomes, typically involving treatment with recombinant human growth hormone.