<unk>  is autosomal dominantly linked.<unk>  has also been found from the random mutation of a gene in an individual having no family history of the condition. However it is not well understood why males tend to express the disease more frequently. Children with<unk>  vary in severity in their maxilla and mandible bony lesions. The disease is expressed at a rate of 80 to 100% of all affected. Studies of multiple generations of families with the gene found that all boys developed<unk> , but 30–50% of girls show no symptoms. The cause of<unk>  is believed to be from a mutation of gene of SH3BP2.<unk>  has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and fragile X syndrome. Mutations of the SH3BP2 gene are only reported in 75% of<unk>  cases. The mutation of the SH3BP2 gene is believed to increase production of over active proteins from this gene. The SH3BP2 gene is found on the smaller arm of chromosome 4 at position 16.3. The SH3BP2 protein is involved with chemical signaling to immune system cells known as macrophages and B cells. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. Osteoclasts also sense the increased inflammation of the mandible and maxilla and are further activated to break down bone structures. Bone loss and inflammation lead to increased fibrous tissue and cyst growth. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of<unk> .
Cherubism
Voyeurism
Kataegis
Coprographia
Pornography addiction
Leucism
Pedophilia
Arthrogryposis