Zori–Stalker–Williams syndrome
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(Redirected from Zori Stalker Williams syndrome)
| Zori–Stalker–Williams syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 600399 |
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]
[edit] 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. 6: 116–122.
- ^ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
- ^ "Pectus excavatum macrocephaly dysplastic nails". Orphanet. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2572.
- ^ ORPHANET - About rare diseases - About orphan drugs
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