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Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia. There had been 31 reported cases by 1991. The numbers of occurrence since then has grown and is reported to be around 80. The differential includes Nicolaides–Baraitser syndrome. == Characteristics == * mild to severe intellectual disability, also called "developmental disability"〔(【引用サイトリンク】title=Greenville: A home of one’s own - Ledger Transcript )〕 * short fifth digits with hypoplastic or absent nails * low birth weight * feeding difficulties upon birth * frequent respiratory infections during infancy * hypotonia * joint laxity * delayed bone age * microcephaly * coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes 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「Coffin–Siris syndrome」の詳細全文を読む スポンサード リンク
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