Diagnosis is often based on symptoms and may be confirmed by collagen biopsy or DNA sequencing.Although there is no cure, most cases of OI do not have a major effect on life expectancy,: 461  death during childhood from it is rare, and many adults with OI can achieve a significant degree of autonomy despite disability. Maintaining a healthy lifestyle by exercising, eating a balanced diet sufficient in vitamin D and calcium, and avoiding smoking can help prevent fractures. Genetic counseling may be sought by those with OI to prevent their children from inheriting the disorder from them. : 101  Treatment may include acute care of broken bones, pain medication, physical therapy, mobility aids such as leg braces and wheelchairs, vitamin D supplementation, and, especially in childhood, rodding surgery. Rodding is an implantation of metal intramedullary rods along the long bones (such as the femur) in an attempt to strengthen them. Medical research also supports the use of medications of the bisphosphonate class, such as pamidronate, to increase bone density. Bisphosphonates are especially effective in children, however it is unclear if they either increase quality of life or decrease the rate of fracture incidence.OI affects only about one in 15,000 to 20,000 people, making it a rare genetic disease. Outcomes depend on the genetic cause of the disorder (its type). Type I (the least severe) is the most common, with other types comprising a minority of cases.
The expression pattern of one or more of these proteins has not yet been found to be of help in distinguishing FHI from other tumor types. Chromosome and gene abnormalities
The EGFR gene which codes for the production of the epidermal growth factor receptor protein is located at band 11.2 on the short (or "p") arm of chromosome 7. Studies using next-generation sequencing targeted to the EGFR gene chromosomal area and confirmed by Sanger sequencing have detected insertion and/or deletion mutations in exon 20 of this gene in the tumor cells of 13 of 13 test FHI cases. While the activity of the normal EGFR protein is blocked by tyrosine kinase inhibitor drugs, most proteins coded by EGFR exon 20-mutated genes do not respond to these drugs due the structural configuration of their EGFR kinase domains; however, certain protein variants coded by these mutated EGFR genes may still be sensitive, and offer a potential treatment option, for a subset of FHI cases. In any event, the identification of these EGFR can help distinguish FHI from other pediatric spindle cell neoplasms with morphologies similar to FHI such as giant cell fibroblastoma.Genomic microarray analyses performed on the two FHI cases with tumors that had areas of sarcoma-like morphology found sarcoma-like cells hyperdiploid (i.e. cell with at least 2 more chromosomes than the normal 48), near tetraploid (i.e.