Dentofacial characteristics in a patient with Aarskog-Scott syndrome

Aarskog-Scott syndrome (ASS), also known as facio-digito-genital syndrome or faciogenital dysplasia, is a rare X-linked recessive disorder that mainly affects the musculoskeletal system of male individuals, and is related with mutations in FGD1. This study presents the case of a 9-year old Japanese boy who was diagnosed with ASS at the age of three. The patient presented to our orthodontic department with hypodontia, impacted teeth, and delayed eruption, with narrow upper arch and retrognathic mandibles. In the present report, we introduce the patient's dentofacial characteristics.