Achondroplasi1 - Achondroplasia Achondroplasia is a Genetic...

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Achondroplasia Achondroplasia is a Genetic Disorder of bone growth which results in abnormally short stature. Achondroplasia is the most common form of Dwarfism. Symptoms People affected with Achondroplasia have normal intelligence but may have some of the following characteristics: Short, stocky arms and legs with a normal length trunk Broad hands and feet with short metacarpals and phalanges of equal length (Trident Hands) Prominent forehead with a flat bridged nose, small face and misaligned, crowded teeth Waddling gait due to bowed legs Exaggerated spinal curvatures Causes Achondroplasia is an autosomal dominant condition caused by a mutation of the Fibroblast-Growth- Factor-Receptor-3 (FGFR-3) gene. The FGFR gene has a negative regulatory effect on bone growth; as such the epiphyseal growth plates fail to develop normally. Mutations either arise spontaneously or are passed on from parent to child. People with Achondroplasia
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Achondroplasi1 - Achondroplasia Achondroplasia is a Genetic...

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