Zori–Stalker–Williams syndrome
| Zori–Stalker–Williams syndrome |
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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
- ^ a b c Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
- ^ Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorph Clin Genet.It is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Zori Stalker Williams syndrome, or a subtype of Zori Stalker Williams syndrome, affects less than 200,000 people in the US population or one person per 2000 people. 6: 116–122.
- ^ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
- ^ "Pectus excavatum macrocephaly dysplastic nails". Orphanet.
- ^ ORPHANET - About rare diseases - About orphan drugs[permanent dead link]
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