KBG syndrome is a genetic disorder characterized by skeletal deformities and intellectual disability that was first diagnosed in 1975. In that year, Doctors Herrmann, Pallister, Tiddy and Opitz led investigations into the phenotype of the disorder by examining three families with the similar characteristics of large upper front teeth (macrodontia), skeletal anomalies, mental retardation, short stature, and characteristic facies. They dubbed this disorder KBG after the surnames of the three families they examined. Since 1975, more symptoms have been added to the list caused by KBG syndrome (KBG Foundation, 2015). Among these are wide and short skulls, triangular faces, prominent nasal bridge, wide spacing of the eyes, thin upper lip, and wide space between lip and nose. Aside from the face, KBG syndrome is known to cause a delay in bone mineralization (causing weak bones typical of someone younger than the patient), as well as abnormalities in the spine, ribs, and hands. People with KBG tend to be short and display anxiety, hyperactivity, and delayed development of speech and motor skills. Other, less common, symptoms include seizures,…show more content… The KGB Foundation notes that this means KBG occurs in approximately .000002% of the world population. As an incredibly rare disease, there are few statistics on effected groups, however KBG has been noted to occur slightly more often in males as compared to females. As the disease is inherited dominantly, KBG tends to follow in families. So those most likely to be affected would be the male members of families in which KBG is present. As the symptoms of KBG are hard to identify without genetic testing, KBG often goes misdiagnosed as autism and skeletal deformities or is not diagnosed at all as symptoms may be mild. For this reason, scientists believe the actual occurrence of KBG Syndrome may be much higher than currently noted (KBG Foundation,
