Jackson-Weiss syndrome
Última actualización 18 Aug 2020
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Jackson-Weiss syndrome is a genetic disorder characterised by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Descripción
Jackson-Weiss syndrome is a genetic disorder characterised by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.
Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.
Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
JWS
Related patient information and medicines
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Lecturas adicionales y referencias
- Jackson-Weiss syndrome; MedlinePlus, National Library of Medicine.
- Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28.
- Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671.
- Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100(4):325-9. doi: 10.1002/ajmg.1271. No abstract available.
- Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred. Am J Med Genet. 2001 May 15;100(4):315-24. doi: 10.1002/ajmg.1266.
- Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. doi: 10.1038/ng1194-275.
- Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1455/
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