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Coffin–Siris syndrome
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Coffin–Siris syndrome : ウィキペディア英語版
Coffin–Siris syndrome

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



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