Williams syndrome: oral findings and orthodontic management of a rare disease

The rare genetic disorder called Williams syndrome is due to microdeletion of long arm of chromosome 7 with defect of 20 genes including the one encodes for elastine. Haploinsufficiency characterizes this syndrome causing effects on many organs. Patients have severe heart diseases, kidney disorders, diseases of the digestive system on hereditary basis, psycho-motor delay, specific behavioral/cognitive profile and typical facial dysmorphism (elphic face) and oral anomalies (micrognathism, hypo-dontia, severe crowding or diastemas, irregular shapes of teeth and dental arches, enamel defects). The orthodontic case of a 14 years old boy affected by the syndrome is reported. The combination of different fixed orthodontic appliances allowed to correct many aspects of his malocclusion: narrow palate, severe crowding, crossbites. The patient greatly improved his dental and functional situation with significant changes also from a cephalometric point of view. The psychological characteristics of this syndrome, in addition to problems arising from other organs disorders that can complicate adherence to therapy, requires an approach very calm and empathetic because not always all sessions find the patient collaborative. Despite difficulties and therapeutic compromises that must be accepted, treating orthodontically these patients is worthwhile to improve the health conditions of their oral cavity.