Zori Stalker Williams syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Zori Stalker Williams syndrome''' is a rare [[syndrome]] associated with a range of diseases and symptoms such as [[Pectus excavatum]], [[macrocephaly]] and dysplastic nails, familial short stature, developmental delay and distinctive facies.<ref>{{RareDiseases|374|Zori Stalker Williams syndrome}}</ref><ref name=orpha>{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2572 |title=Pectus excavatum macrocephaly dysplastic nails |format= |work=Orphanet |accessdate=}}</ref> Further signs are known to be associated with this syndrome.<ref>[http://www.orpha.net/consor/cgi-bin/patsgn_data.php?PatId=2572&PatLbl=Pectus+excavatum+macrocephaly+dysplastic+nails&Asb=Pat&PHPSESSID=28eba7421d3ae4cea7fae36b130d362d ORPHANET - About rare diseases - About orphan drugs<!-- Bot generated title -->]</ref> | '''Zori Stalker Williams syndrome''' is a rare [[syndrome]] associated with a range of diseases and symptoms such as [[Pectus excavatum]], [[macrocephaly]] and dysplastic nails, familial short stature, developmental delay and distinctive facies.<ref>{{RareDiseases|374|Zori Stalker Williams syndrome}}</ref><ref name=orpha>{{cite web |url=http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2572 |title=Pectus excavatum macrocephaly dysplastic nails |format= |work=Orphanet |accessdate=}}</ref> Further signs are known to be associated with this syndrome.<ref>[http://www.orpha.net/consor/cgi-bin/patsgn_data.php?PatId=2572&PatLbl=Pectus+excavatum+macrocephaly+dysplastic+nails&Asb=Pat&PHPSESSID=28eba7421d3ae4cea7fae36b130d362d ORPHANET - About rare diseases - About orphan drugs<!-- Bot generated title -->]</ref> | ||
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{{Phakomatoses and other congenital malformations not elsewhere classified}} | {{Phakomatoses and other congenital malformations not elsewhere classified}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Revision as of 17:35, 20 August 2012
Overview
Zori Stalker Williams syndrome is a rare syndrome associated with a range of diseases and symptoms such as Pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.[1][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]
References
- ↑ Template:RareDiseases
- ↑ "Pectus excavatum macrocephaly dysplastic nails". Orphanet.
- ↑ ORPHANET - About rare diseases - About orphan drugs
- ↑ 4.0 4.1 Online Mendelian Inheritance in Man (OMIM) Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails -600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Template:Phakomatoses and other congenital malformations not elsewhere classified