The appearance of people with the disorder is caused by a loss of bone in the mandible which the body replaces with excessive amounts of fibrous tissue. In most cases, the condition fades as the child grows, but in rare cases the condition continues to deform the affected person's face.<unk>  also causes premature loss of the primary teeth and lack of eruption of the permanent teeth.<unk>  is a rare autosomal dominant disease of the maxilla and mandible. Approximately 200 cases have been reported by medical journals with the majority being males.<unk>  is usually first diagnosed around age seven and continues through puberty and may or may not continue to advance with age. Degrees of<unk>  vary from mild to severe. Osteoclastic and osteoblastic remodeling contributes to the change of normal bone to fibrous tissue and cyst formation. As noted by the name, the patient's face becomes enlarged and disproportionate due to the fibrous tissue and atypical bone formation. The sponge-like bone formations lead to early tooth loss and permanent tooth eruption problems. The condition also affects the orbital area, creating an upturned eye appearance. The cause of<unk>  is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3. While the condition is rare and painless, the afflicted suffer the emotional trauma of disfigurement. The effects of<unk>  may also interfere with normal jaw motion and speech. Currently, removal of the tissue and bone by surgery is the only treatment available. This condition is also one of the few that unexpectedly stops and regresses. Normal bone remodeling activity may resume after puberty.<unk>  is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla. Large cysts will be present with excessive fibrous areas inside the bone. The fibers and cysts will be found among the trabecula of the Coronoid process, the ramus of mandible, the body of mandible and the maxilla regions. The maxilla will be affected up to and including the orbits and sometimes inside the lower orbits. The maxilla and zygomatic bones are depressed and eyes appear to gaze upward. The maxilla has been found to be more severely affected in most cases than the mandible bone. Some patients found with lower inner orbital growths and cysts may lose vision.
Cherubism
Voyeurism
Kataegis
Coprographia
Pornography addiction
Leucism
Pedophilia
Arthrogryposis