Medicine:Jackson–Weiss syndrome
| Jackson–Weiss syndrome | |
|---|---|
| Other names | Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] |
 | |
| Jackson–Weiss syndrome is inherited in an autosomal dominant pattern | |
| Symptoms | Hypertelorism[1] |
| Causes | Mutations in the FGFR2 gene [2] |
| Diagnostic method | Genetic testing[2] |
| Treatment | Surgery[3] |
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.[2] It was characterized in 1976.[4]
Signs and 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:[2][1][5]
- Preaxial foot polydactyl
- Tarsal synostosis
- Frontal bossing
- Proptosis
- Craniosynostosis
- Midfacial hypoplasia
- Acrocephaly
- Flat occiput
- Ocular hypertelorism
- Downslanted palpebral fissures
- Ptosis
- Strabismus
- Flat nasal bridge
- Maxillary hypoplasia
- Cleft palate
- Malformed ears
Genetics
Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2,[6] 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,[7][8][9] this condition is inherited in an autosomal dominant pattern.[2] Autosomal dominant means one copy of the altered gene in each cell is sufficient to cause the disorder.[10]
Diagnosis
The diagnosis of Jackson–Weiss syndrome in an individual suspected of having the condition is done via the following:
- Genetic testing[11]
- Clinical presentation[8]
Differential diagnosis
The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis.[8]
Treatment
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Treatment for Jackson–Weiss syndrome can be done through surgery for some facial features and feet.[3] Secondary complications such as hydrocephalus or cognitive impairment, can be averted via prompt surgery.[8]
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.
References
- ↑ 1.0 1.1 1.2 "Jackson-Weiss syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome.
- ↑ 2.0 2.1 2.2 2.3 2.4 "Jackson-Weiss syndrome". https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome.
- ↑ 3.0 3.1 Fryns, Buggenhout, Jean, Griet (July 2005). "Jackson–Weiss syndrome". pp. 2. http://www.orpha.net/data/patho/GB/uk-Jackson-WeissSyndrome2005.pdf.
- ↑ "Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred". J. Pediatr. 88 (6): 963–8. June 1976. doi:10.1016/S0022-3476(76)81050-5. PMID 1271196.subscription required
- ↑ "Jackson-Weiss Syndrome". https://rarediseases.org/rare-diseases/jackson-weiss-syndrome/.
- ↑ "Roles of FGF signaling in skeletal development and human genetic diseases". Front Biosci 10 (1–3): 1961–76. 2005. doi:10.2741/1671. PMID 15769677.subscription required
- ↑ "FGFR2 gene". https://ghr.nlm.nih.gov/gene/FGFR2.
- ↑ 8.0 8.1 8.2 8.3 Robin, Nathaniel H.; Falk, Marni J.; Haldeman-Englert, Chad R. (1 January 1993). "FGFR Craniosynostosis Syndromes Overview". FGFR-Related Craniosynostosis Syndromes. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1455/. Retrieved 14 December 2016.update 2011
- ↑ Kelly, Evelyn B. (2013) (in en). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. p. 417. ISBN 9780313387142. https://books.google.com/books?id=SjfKybobUIYC&q=jackson-weiss+syndrome+nih&pg=PA416. Retrieved 14 December 2016.
- ↑ "Autosomal dominant: MedlinePlus Medical Encyclopedia". https://medlineplus.gov/ency/article/002049.htm.
- ↑ "Jackson-Weiss syndrome - Conditions - GTR - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C0795998/.
Further reading
- (in en) NORD guide to rare disorders. Philadelphia: Lippincott Williams & Wilkins. 2003. ISBN 9780781730631. https://books.google.com/books?id=99YPDvFWBB0C&q=epidemiology+jackson+weiss+syndrome&pg=PA719. Retrieved 14 December 2016.
- Nowalk, [edited by] Basil J. Zitelli, Sara C. McIntire, Andrew J.; McIntire, Sara C.; Nowalk, Andrew J. (2012) (in en). Zitelli and Davis' atlas of pediatric physical diagnosis (6th ed.). Philadelphia, PA: Saunders/Elsevier. ISBN 978-0323079327. https://books.google.com/books?id=f-ZdQ2xiMxwC&q=jackson+weiss+syndrome+prognosis&pg=PA898. Retrieved 14 December 2016.
External links
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