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Zunich–Kaye syndrome : ウィキペディア英語版 | Zunich–Kaye syndrome
Zunich–Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. It is also referred to as CHIME syndrome, after its main symptoms (colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy).〔(OrphaNet entry )〕 It is a congenital〔(Birth Disorder Information Directory - Z )〕 syndrome with only a few cases studied and published.〔 ==Symptoms== Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, intellectual disability, and ear abnormalities. Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate.
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「Zunich–Kaye syndrome」の詳細全文を読む
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