Camurati-Engelmann Syndrome

Camurati-Engelmanns syndrom

Svensk definition

Tilltagande förtjockning av rörbenens diafyseala barkskikt.

Engelsk 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.

Svenska synonymer

Camurati-Engelmanns syndrom Engelmanns sjukdom Diafysdysplasi, progressiv

Engelska synonymer

Camurati Engelmann Syndrome Engelmann's Disease Engelmann Disease Camurati-Engelmann Disease Camurati Engelmann Disease Diaphyseal Dysplasia, Progressive Diaphyseal Hyperostosis Diaphyseal Hyperostoses Hyperostoses, Diaphyseal Hyperostosis, Diaphyseal Diaphyseal Dysplasia 1, Progressive Progressive Diaphyseal Dysplasia Diaphyseal Dysplasias, Progressive Dysplasia, Progressive Diaphyseal Dysplasias, Progressive Diaphyseal