Zori–Stalker–Williams syndrome
Template:Short description Template:Infobox medical condition (new) Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,[1] is a rare autosomal dominant[2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.[3][4] Further signs are known to be associated with this syndrome.[5]
The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.[1]
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.[1]
References
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- ↑ a b c Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
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- ↑ Template:RareDiseases
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- ↑ ORPHANET – About rare diseases – About orphan drugsScript error: No such module "Unsubst".
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External links
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