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Zori–Stalker–Williams syndrome : ウィキペディア英語版
Zori–Stalker–Williams syndrome

Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,〔 is a rare autosomal dominant congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies. Further signs are known to be associated with this syndrome.〔(ORPHANET - About rare diseases - About orphan drugs )〕
The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.〔 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails〕
It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.〔
==References==




抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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