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A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait.
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