Medicine:Zori–Stalker–Williams syndrome
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Revision as of 17:34, 11 July 2022 by imported>JTerm (correction)
Short description: Genetic disease
| Zori–Stalker–Williams syndrome | |
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| Other names | Pectus excavatum, macrocephaly, short stature and dysplastic nail |
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| Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance. | |
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
- ↑ 1.0 1.1 1.2 Online Mendelian Inheritance in Man (OMIM) Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails -600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
- ↑ "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics 6: 116–122. 1992.
- ↑ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
- ↑ "Pectus excavatum macrocephaly dysplastic nails". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2572.
- ↑ ORPHANET – About rare diseases – About orphan drugs[yes|permanent dead link|dead link}}]
External links
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