Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Osteochondrodysplasia > Progressive Diaphyseal Dysplasia > Engelmann Syndrome Disease Database
PreviousEngelmann Syndrome Disease Database
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Location: http://www.diseasesdatabase.com/ddb4301.htm
Description: "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."
3 synonyms or equivalents were found.
Engelmann's syndrome
aka/or
Progressive diaphyseal dysplasia
aka/or
Camurati-Engelmann disease
may cause or feature
Miscellaneous syndromes
Hyperostosis
Symptoms and Signs
Tall stature
Endocrine conditions
Hypopituitarism
Type: Reference Material
Author/Contact: Not available
Institution: Disease Database
Primary Subject/Category:
Submitted by: admin
Hits: 860
Added: Tue Dec 19 2006