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MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide (less than 10 cases have been diagnosed as of December 2014). Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an enzyme crucial to DNA replication to be defective. ==Summary of features== * mandibular hypoplasia (a small lower jaw), * deafness, * tightening of the skin, * lipodystrophy (a reduction in fat under the skin), * low testosterone levels in males, * contractures of the long tendons of the toes resulting in claw toes and joint stiffness. 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「MDP syndrome」の詳細全文を読む スポンサード リンク
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