Jackson–Weiss syndrome
| Jackson–Weiss syndrome | |
|---|---|
| Other names | Craniosynostosis, midfacial hypoplasia, and foot abnormalities 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
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
- Tarsalsynostosis
- 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
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.
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 "Jackson-Weiss syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 14 December 2016.
- ^ a b c d e "Jackson-Weiss syndrome". Genetics Home Reference. Retrieved 14 December 2016.
- ^ a b Fryns, Buggenhout, Jean, Griet (July 2005). "Jackson–Weiss syndrome" (PDF). p. 2. Archived from the original (PDF) on 2022-05-03. Retrieved 2009-03-31.
{{cite web}}: CS1 maint: multiple names: authors list (link) - PMID 1271196.subscription required
- ^ "Jackson-Weiss Syndrome". National Organization for Rare Disorders. Retrieved 22 February 2023.
- PMID 15769677.subscription required
- ^ "FGFR2 gene". Genetics Home Reference. Retrieved 14 December 2016.
- ^ )update 2011
- 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.
Further reading
- Disorders, the National Organization for Rare, ed. (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 978-0323079327. Retrieved 14 December 2016.)
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External links
