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Tetra-amelia syndrome : ウィキペディア英語版 | Tetra-amelia syndrome
Tetra-amelia syndrome (''tetra-'' + ''amelia''), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus and pelvis.〔 The disorder is caused by mutations in the WNT3 gene.〔 Australian motivational speaker Nick Vujicic and Japanese author and sports journalist Hirotada Ototake are survivors of the syndrome. ==Characteristics== Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth.
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「Tetra-amelia syndrome」の詳細全文を読む
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