encyclopedia of medical concepts
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Camurati-Engelmann Syndrome
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Definition
: 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.
Other names
Engelmann's Disease; Diaphyseal Dysplasia, Progressive; Dysplasias, Progressive Diaphyseal; Dysplasia, Progressive Diaphyseal; Diaphyseal Dysplasias, Progressive; Camurati Engelmann Syndrome; Camurati Engelmann Disease; Engelmann Disease; Camurati-
Engelmann Disease
Substance
CAS Registry & name
Categories
Source
Diaphyseal dysplasia 1, progressive
0
*Camurati-Engelmann Syndrome.
Camurati Engelmann disease, type 2
0
*Camurati-Engelmann Syndrome.
Ribbing disease
0
*Camurati-Engelmann Syndrome
*Osteoma, Osteoid.
