Camurati-Engelmann Syndrome
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Year introduced: 2007(1975)
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Subheadings:
Tree Number(s): C05.116.099.708.180, C16.320.144
MeSH Unique ID: D003966
Entry Terms:
- Camurati Engelmann Syndrome
- Diaphyseal Dysplasia 1, Progressive
- Engelmann's Disease
- Progressive Diaphyseal Dysplasia
- Diaphyseal Dysplasias, Progressive
- Dysplasia, Progressive Diaphyseal
- Dysplasias, Progressive Diaphyseal
- Camurati-Engelmann Disease
- Camurati Engelmann Disease
- Diaphyseal Dysplasia, Progressive
- Diaphyseal Hyperostosis
- Diaphyseal Hyperostoses
- Hyperostoses, Diaphyseal
- Hyperostosis, Diaphyseal
- Engelmann Disease