Zori–Stalker–Williams syndrome | |
Synonyms: | Pectus excavatum, macrocephaly, short stature and dysplastic nail |
Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant[1] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.[2] Further signs are known to be associated with this syndrome.[3]
The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.[4]
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.[4]