Achondroplasia - Achondroplasia

Japanese: 軟骨発育不全症 - なんこつはついくふぜんしょう（英語表記）achondroplasia

Also known as achondroplasia and fetal chondrodysplasia. A typical example of congenital dwarfism. A systemic growth disorder caused by abnormalities in endochondral ossification (also known as enchondral ossification, one form of bone formation), it is inherited dominantly, but there are also many cases of isolated mutations. The growth of bone length is affected, but not thickness, resulting in a dwarf with thick, short limbs. Spinal development is relatively normal, the head is large in comparison to the limbs, and there is no intellectual disability. There is no specific treatment.

Source: Encyclopaedia Britannica Concise Encyclopedia About Encyclopaedia Britannica Concise Encyclopedia Information

Japanese:

軟骨形成不全症，胎児性軟骨異発育症ともいう。先天性小人症の代表的疾患。軟骨内骨化 (内軟骨性骨化ともいう。骨形成の様式の一つ) の異常による全身性の発育障害で，優性遺伝するが，突然変異の単発例も少くない。骨の長さの成長が侵されるが，太さの成長は侵されないので，太くて短い四肢をもった小人になる。脊椎の発育は比較的正常で，頭は四肢に比して大きく，知能障害もない。特別の治療法はない。

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