Camurati-Engelmann Syndrome

Overview

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Is a:

Congenital Abnormality

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.

Synonyms:

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

Broader Topics:

Genetic Diseases, Inborn
Osteochondrodysplasias

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity