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Engelmann 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
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Language: English

Submitted by: admin
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Added: Tue Dec 19 2006