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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Seckel syndrome ： ウィキペディア英語版 Seckel syndrome The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel) is a congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures , receding mandible and intellectual disability. A mouse model has been developed. ==Genetics== It is supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3 related protein () which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism. Types include: 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「Seckel syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.