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Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (''FGFR3'') that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. It is classified as short-limbed dwarfism. ==Features== People affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly and their body becomes thicker and shorter than normal. The head is normal but appears large due to the underdevelopment of other parts of the body, a symptom called "relative macrocephaly". The clinical and radiographic features of this disorder are milder than those seen in achondroplasia. Intelligence is usually normal. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hypochondroplasia」の詳細全文を読む スポンサード リンク
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