| 词条 | Jackson–Weiss syndrome |
| 释义 |
| name = Jackson–Weiss syndrome | image = Image:Autosomal dominant - en.svg | caption = Jackson–Weiss syndrome is inherited in an autosomal dominant pattern | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the FGFR2 gene [1] | risks = | diagnosis = Genetic testing[1] | differential = | prevention = | treatment = Surgery[3] | medication = | prognosis = | frequency = | deaths = }}Jackson–Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. This genetic disorder can also sometimes cause intellectual disability and crossed eyes.[1] It was characterized in 1976.[2] Signs/symptomsMany of the characteristic facial features (among other) of Jackson–Weiss syndrome result from the premature fusion of the skull bones. The following are some of the more common, such as:[1][3]
GeneticsMutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2,[4] which occurs in chromosome number 10. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which promotes the premature fusion of bones in the skull and feet,[5][6][7] this condition is inherited in an autosomal dominant pattern.[1] Autosomal dominant means one copy of the altered gene in each cell is sufficient to cause the disorder.[8] DiagnosisThe diagnosis of Jackson–Weiss syndrome in an individual suspected of having the condition is done via the following:
Differential diagnosisThe DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis.[6] TreatmentTreatment for Jackson–Weiss syndrome can be done through surgery for some facial features and feet.[10] Secondary complications such as hydrocephalus or cognitive impairment, can be averted via prompt surgery.[6] EpidemiologyIn terms of epidemiology, Jackson–Weiss syndrome is a rare genetic disorder; the overall contribution of FGFR mutation to the condition is not clear.{{medical citation needed|date=December 2016}} References1. ^1 2 3 4 {{cite web|last1=Reference|first1=Genetics Home|title=Jackson-Weiss syndrome|url=https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome|website=Genetics Home Reference|accessdate=14 December 2016}} 2. ^{{cite journal |vauthors=Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA |title=Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred |journal=J. Pediatr. |volume=88 |issue=6 |pages=963–8 |date=June 1976 |pmid=1271196 |doi= 10.1016/S0022-3476(76)81050-5|url=}}subscription required 3. ^{{cite web|title=Jackson-Weiss syndrome {{!}} Genetic and Rare Diseases Information Center(GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome|website=rarediseases.info.nih.gov|accessdate=14 December 2016}} 4. ^{{cite journal | vauthors=Chen L, Deng CX | title=Roles of FGF signaling in skeletal development and human genetic diseases | journal=Front Biosci | year=2005 | pages=1961–76 | issue=1–3 | volume=10 | pmid=15769677 | doi=10.2741/1671}}subscription required 5. ^{{cite web|last1=Reference|first1=Genetics Home|title=FGFR2 gene|url=https://ghr.nlm.nih.gov/gene/FGFR2#|website=Genetics Home Reference|accessdate=14 December 2016}} 6. ^1 2 3 {{cite journal|last1=Robin|first1=Nathaniel H.|last2=Falk|first2=Marni J.|last3=Haldeman-Englert|first3=Chad R.|title=FGFR-Related Craniosynostosis Syndromes|journal=GeneReviews(®)|date=1 January 1993|url=https://www.ncbi.nlm.nih.gov/books/NBK1455/|accessdate=14 December 2016}}update 2011 7. ^{{cite book|last1=Kelly|first1=Evelyn B.|title=Encyclopedia of human genetics and disease|date=2013|publisher=Greenwood|location=Santa Barbara, Calif.|isbn=9780313387142|page=417|url=https://books.google.com/?id=SjfKybobUIYC&pg=PA416&lpg=PA416&dq=jackson-weiss+syndrome+nih#v=onepage&q=jackson-weiss%20syndrome%20nih&f=false|accessdate=14 December 2016|language=en}} 8. ^{{cite web|title=Autosomal dominant: MedlinePlus Medical Encyclopedia|url=https://medlineplus.gov/ency/article/002049.htm|website=medlineplus.gov|accessdate=14 December 2016}} 9. ^{{cite web|title=Jackson-Weiss syndrome - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0795998/|website=www.ncbi.nlm.nih.gov|accessdate=14 December 2016}} 10. ^1 {{cite web|url=http://www.orpha.net/data/patho/GB/uk-Jackson-WeissSyndrome2005.pdf|title=Jackson–Weiss syndrome|last=Fryns, Buggenhout|first=Jean, Griet|date=July 2005|pages=2|accessdate=2009-03-31}} Further reading
External links{{Medical resources| DiseasesDB = 31364 | ICD10 = Q87.89 | ICD9 = | ICDO = | OMIM = 123150 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Receptor deficiencies}}{{Medicine}}{{DEFAULTSORT:Jackson-Weiss syndrome}} 5 : Rare syndromes|Autosomal dominant disorders|Syndromes affecting the eyes|Cell surface receptor deficiencies|Syndromes with craniofacial abnormalities |
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