Langer-Giedion Syndrome is often a true contiguous gene deletion syndrome due to deletions both in the TRPS and EXT1 genes. The lack of a functional EXT1 gene causes the bone exostoses, bone anomalies and facial abnormalities which can be noticed in patients. The EXT1 gene and the TRPS1 gene tend to be absent in patients and research suggests that other genes based in the 8q24.11-8q24.13 region of chromosome 8 may be deleted or non-functional also. Longer deletions in this area are characterized by mental retardation and also the other variations in symptoms stated previously. Aceruloplasminemia is a genetic disorder characterized by iron gradually gathering within the patient's brain as well as other organs. The build-up of iron inside brain causes different neurological problems that often appear once the patient is surely an adult, and they also become worse over time. Through staring at the genetics of aceruloplasminemia, it really is known that about one inch 100,000 individuals are affected, though the exact incidence rate is not known.