Systemic Inherited Disorders with Involvement of Multiple Oral Structures

This chapter discusses some of the various systemic disorders involving multiple oral structures. In bird-headed dwarfism, the face is narrow with a receding mandible. The eyes are large with mild antimongoloid obliquity of the palpebral fissures, strabismus, and ocular hypertelorism. The most characteristic finding is the beak-like protrusion of the midface. The chapter discusses another disorder, cleidocranial dysplasia, which is transmitted in an autosomal dominant manner—although in less than half the cases, it arises spontaneously— caused either by mutation or a gene with poor penetrance. The cockayne syndrome is characterized by cachectic dwarfism, premature aging, mental deficiency, microcephaly, intracranial calcifications, neurological deficits, retinal pigmentary abnormalities, sensorineural deafness, and photosensitivity. The facies has a typical bird-like appearance, accentuated by a beak-like nose, sunken eyes, and prominent cheek bones.