JacksonâWeiss syndrome | |
---|---|
Other names | Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] |
JacksonâWeiss 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] |
JacksonâWeiss 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]
Many of the characteristic facial features (among other) of JacksonâWeiss syndrome result from the premature fusion of the skull bones. The following are some of the more common, such as: [2] [1] [5]
Mutations in the FGFR2 gene cause JacksonâWeiss 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]
The diagnosis of JacksonâWeiss syndrome in an individual suspected of having the condition is done via the following:
The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis. [8]
Treatment for JacksonâWeiss 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]
In terms of epidemiology, JacksonâWeiss syndrome is a rare genetic disorder; the overall contribution of FGFR mutation to the condition is not clear.[ medical citation needed]
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has generic name (
help)CS1 maint: multiple names: authors list (
link)JacksonâWeiss syndrome | |
---|---|
Other names | Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] |
JacksonâWeiss 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] |
JacksonâWeiss 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]
Many of the characteristic facial features (among other) of JacksonâWeiss syndrome result from the premature fusion of the skull bones. The following are some of the more common, such as: [2] [1] [5]
Mutations in the FGFR2 gene cause JacksonâWeiss 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]
The diagnosis of JacksonâWeiss syndrome in an individual suspected of having the condition is done via the following:
The DDx for this condition includes metopic synostosis, as well as Lambdoida synostosis. [8]
Treatment for JacksonâWeiss 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]
In terms of epidemiology, JacksonâWeiss syndrome is a rare genetic disorder; the overall contribution of FGFR mutation to the condition is not clear.[ medical citation needed]
{{
cite web}}
: CS1 maint: multiple names: authors list (
link)
{{
cite book}}
: |journal=
ignored (
help)update 2011
{{
cite book}}
: |first1=
has generic name (
help)CS1 maint: multiple names: authors list (
link)