| 词条 | Zori–Stalker–Williams syndrome |
| 释义 |
| name = Zori–Stalker–Williams syndrome | image = Autosomal dominant - en.svg | caption = Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance. | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,[1] 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][3] Further signs are known to be associated with this syndrome.[4] The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.[5] 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.[5] References1. ^{{cite journal |vauthors=Zori RT, Stalker HJ, Williams CA |title=A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails |journal= Dysmorphology and Clinical Genetics |volume=6 |pages=116–122 |year=1992}} 2. ^{{RareDiseases|374|Zori Stalker Williams syndrome}} 3. ^{{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= |website=Orphanet |accessdate=}} 4. ^ORPHANET - About rare diseases - About orphan drugs{{dead link|date=July 2016 |bot=InternetArchiveBot |fix-attempted=yes }} 5. ^1 2 {{OMIM|600399|Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails}} - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 600399 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 2835 }}{{Phakomatoses and other congenital malformations not elsewhere classified}}{{DEFAULTSORT:Zori-Stalker-Williams syndrome}}{{genetic-disorder-stub}} 4 : Autosomal dominant disorders|Rare diseases|Syndromes|Genetic disorders with OMIM but no gene |
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