There are two clinical molecular genetic test that are available to those thought to have Pyle’s Disease. Theses test are; Sequence analysis of the entire coding region and Deletion/duplication analysis. Differential diagnosis Pyle disease may be confused with craniometaphyseal dysplasia. The two, however, are clinically, radiographically, and genetically distinct from one another.
Metaphyseal dysplasia
Multiple epiphyseal dysplasia
Achondroplasia
Otospondylomegaepiphyseal dysplasia
Craniodiaphyseal dysplasia
Cemento-osseous dysplasia
Spondylo-meta-epiphyseal dysplasia
Craniometaphyseal dysplasia