[1] People with the disease often have overall inflammation with skeletal symptoms that could include increased bone density associated with dysplasia.

[12] Ghosal hematodiaphyseal dysplasia is an inherited autosomal recessive disorder due to a mutation in both copies of the TBXAS1 gene on chromosome 7q34.

[9] This enzyme has a couple of essential functions in the body that, if removed, could lead to the symptoms observed with the disease.

[4] Blood transfusions can treat the low levels of hemoglobin in patients, but symptoms usually come back in irregular intervals.

The intervention of corticosteroid treatment is effective because patients can maintain healthy hemoglobin levels without the need for blood transfusions.

Some people treated early with the condition can achieve a healthy weight with thinning of dysplastic diaphysis to being close to normal.

[16] There were five patients in early childhood had two significant symptoms of the disease characterized today as Ghosal hematodiaphyseal dysplasia.

The two symptoms described were thick long bones of the extremities with features of diaphyseal dysplasia and anemia that was not responsive to hematinics.

This minor detail when it comes to Englemann disease is essential because there is a consistent mention of the metaphyses of the long bones to have been unaffected.

The region is made of the TBXAS1 gene, which is associated with bleeding disease, BRAF, which is associated with cancers, and ATP6VoA4, which is associated with renal distal tubular acidosis with sensorineural hearing loss.