Jackson–Weiss syndrome
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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]
Quick Facts Other names, Symptoms ...
Jackson–Weiss syndrome | |
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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] |
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