Camurati-Engelmann disease
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High Quality Content by WIKIPEDIA articles! Camurati-Engelmann Disease is a form of dysplasia and a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bones. The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, sometimes leading to sensory deficits such as blindness, or deafness. This disease often appears in childhood and is considered to be inherited, although not all patients have a…mehr

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High Quality Content by WIKIPEDIA articles! Camurati-Engelmann Disease is a form of dysplasia and a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. Patients typically have heavily-thickened bones, especially along the shafts of the long bones. The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, sometimes leading to sensory deficits such as blindness, or deafness. This disease often appears in childhood and is considered to be inherited, although not all patients have a previous history of Camurati-Engelmann disease within their family. There are approximately 200 known cases worldwide. The disease is slowly progressive and, while there is no cure, there is treatment. The most common mutation causing Camurati-Engelmann Disease is in the gene encoding for the TGF-B1 factor.