Jackson–Weiss syndrome
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 and symptoms[edit | edit source]
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 synostosis
- Frontal bossing
- Proptosis
Genetics[edit | edit source]
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[edit | edit source]
The diagnosis of Jackson–Weiss syndrome in an individual suspected of having the condition is done via the following:
- Genetic testing[9]
- Clinical presentation[6]
Differential diagnosis[edit | edit source]
The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis.[6]
Treatment[edit | edit source]
.jpg)
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[edit | edit source]
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[edit | edit source]
- ↑ 1.0 1.1 1.2 Reference, Genetics Home. "Jackson-Weiss syndrome". Genetics Home Reference. Retrieved 14 December 2016.
- ↑ subscription required
- ↑ "Jackson-Weiss syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 December 2016.
- ↑ subscription required
- ↑ Reference, Genetics Home. "FGFR2 gene". Genetics Home Reference. Retrieved 14 December 2016.
- ↑ 6.0 6.1 6.2 6.3 update 2011
- ↑
- ↑ "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.
{{cite web}}: CS1 maint: multiple names: authors list (link)
Further reading[edit | edit source]
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
