ジャクソン・ワイス症候群
WordNet
- 7th president of the US; successfully defended New Orleans from the British in 1815; expanded the power of the presidency (1767-1845) (同)Andrew Jackson, Old Hickory
- English film actress who later became a member of British Parliament (born in 1936) (同)Glenda Jackson
- United States writer of romantic novels about the unjust treatment of Native Americans (1830-1885) (同)Helen Hunt Jackson, Helen Maria Fiske Hunt Jackson
- United States civil rights leader who led a national campaign against racial discrimination and ran for presidential nomination (born in 1941) (同)Jesse Jackson, Jesse Louis Jackson
- United States singer who did much to popularize gospel music (1911-1972) (同)Mahalia Jackson
- United States singer who began singing with his four brothers and later became a highly successful star during the 1980s (born in 1958) (同)Michael Jackson, Michael Joe Jackson
- general in the Confederate Army during the American Civil War whose troops at the first Battle of Bull Run stood like a stone wall (1824-1863) (同)Thomas Jackson, Thomas J. Jackson, Thomas Jonathan Jackson, Stonewall Jackson
- capital of the state of Mississippi on the Pearl River (同)capital of Mississippi
- a town in south central Michigan
- a town in western Tennessee
- a town in western Wyoming
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- any of several imperial dynasties of China ruling from 220 to 265 and from 386 to 556 (同)Wei dynasty
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/09/27 17:10:20」(JST)
[Wiki en表示]
| Jackson–Weiss syndrome |
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| Jackson–Weiss syndrome is inherited in an autosomal dominant pattern |
| Classification and external resources |
| ICD-10 |
Q87.89 |
| OMIM |
123150 |
| DiseasesDB |
31364 |
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[edit on Wikidata]
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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 as well,[1] it was characterized in 1976.[2]
Contents
- 1 Signs/symptoms
- 2 Genetics
- 3 Diagnosis
- 3.1 Differential diagnosis
- 4 Treatment
- 5 References
- 6 Further reading
Signs/symptoms
Many 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]
- Preaxial foot polydactyl
- Tarsal[disambiguation needed] synostosis
- Frontal bossing
- Proptosis
Genetics
Fibroblast growth factor receptor 2
Mutations 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]
Diagnosis
The diagnosis of Jackson–Weiss syndrome is done via the following:
- Genetic testing[9]
- Clinical presentation[6]
Differential diagnosis
The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis.[6]
Treatment
Treatment 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]
Epidemiology
In 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]
References
- ^ a b c Reference, Genetics Home. "Jackson-Weiss syndrome". Genetics Home Reference. Retrieved 14 December 2016.
- ^ Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA (June 1976). "Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred". J. Pediatr. 88 (6): 963–8. PMID 1271196. doi:10.1016/S0022-3476(76)81050-5. subscription required
- ^ "Jackson-Weiss syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 December 2016.
- ^ Chen L, Deng CX (2005). "Roles of FGF signaling in skeletal development and human genetic diseases". Front Biosci. 10 (1-3): 1961–76. PMID 15769677. doi:10.2741/1671. subscription required
- ^ Reference, Genetics Home. "FGFR2 gene". Genetics Home Reference. Retrieved 14 December 2016.
- ^ a b c d Robin, Nathaniel H.; Falk, Marni J.; Haldeman-Englert, Chad R. (1 January 1993). "FGFR-Related Craniosynostosis Syndromes". GeneReviews(®). University of Washington, Seattle. Retrieved 14 December 2016. update 2011
- ^ Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. p. 417. ISBN 9780313387142. Retrieved 14 December 2016.
- ^ "Autosomal dominant: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 14 December 2016.
- ^ "Jackson-Weiss syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 14 December 2016.
- ^ Fryns, Buggenhout, Jean, Griet (July 2005). "Jackson–Weiss syndrome" (PDF). p. 2. Retrieved 2009-03-31.
Further reading
- Disorders, ed. by the National Organization for Rare (2003). NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. ISBN 9780781730631. Retrieved 14 December 2016.
- Nowalk, [edited by] Basil J. Zitelli, Sara C. McIntire, Andrew J.; McIntire, Sara C.; Nowalk, Andrew J. (2012). Zitelli and Davis' atlas of pediatric physical diagnosis (6th ed.). Philadelphia, PA: Saunders/Elsevier. ISBN 0323079326. Retrieved 14 December 2016.
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Cell surface receptor deficiencies
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G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
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| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
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| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
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| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
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| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
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| GC |
- GUCY2D (Leber's congenital amaurosis 1)
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| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
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| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
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| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
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Medicine
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Specialties
and
subspecialties |
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Surgery
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- Cardiac surgery
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- Gynaecology
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Diagnostic
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| Medical education |
- Medical school
- Bachelor of Medicine, Bachelor of Surgery
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| Related topics |
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UpToDate Contents
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English Journal
- Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
- Ohishi A1,2, Nishimura G3, Kato F2, Ono H2, Maruwaka K4, Ago M5, Suzumura H6, Hirose E7, Uchida Y8, Fukami M9, Ogata T10.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Sep 28. doi: 10.1002/ajmg.a.37992. [Epub ahead of print]
- Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome
- PMID 27683237
- Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
- Agochukwu NB1, Solomon BD2, Muenke M2.
- International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28.
- OBJECTIVE: This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackso
- PMID 25441602
- [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].
- Hertz JM1, Juncker I, Christensen L, Østergaard JR, Jensen PK.
- Ugeskrift for laeger.Ugeskr Laeger.2001 Sep 3;163(36):4862-7.
- Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase receptors, fibroblast growth factor receptors. Four gen
- PMID 11571861
Japanese Journal
- 線維芽細胞増殖因子受容体の変異と骨系統疾患(若野洋一歯科臨床医学奨励賞受賞講演)
- 谷本 起穗,Tanimoto Yukiho
- 四国歯学会雑誌 18(2), 187-193, 2006-01
- … Mutations of the human fibroblast growth factor receptors (FGFRs) have been identified to be the cause of a number of craniosynostosis syndromes such as Crouzon, Pfeiffer, Jackson-Weiss, Apert, Beare-Stevenson, and Muenke syndromes. … We have recently reported an abnormal rapid mineralization of the callus during distraction osteogenesis of the deformed thumb in an Apert syndrome patient. …
- NAID 110006560948
- Crouzon syndrome : mutations in two spliceforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome
Related Links
- Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects ...
- Looking for online definition of Jackson-Weiss syndrome in the Medical Dictionary? Jackson-Weiss syndrome explanation free. What is Jackson-Weiss syndrome? Meaning of Jackson-Weiss syndrome medical term. What does ...
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