Chapter 17 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)»Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)»Progressive diaphyseal dysplasia (Q78.3)
Q78.3
Progressive diaphyseal dysplasia
Related indications (MeSH) (1)
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.