ABSTRACT
Enamel defects are seen in a number of generalised genetic disorders; defects occurring in isolation are termed amelogenesis imperfecta. Even minor facial anomalies can cause great distress, and accurate information regarding possible risks to offspring will usually provide considerable relief from worry for such people. Aarskog syndrome is an X-linked recessive disorder combining hypertelorism with digital and spinal abnormalities and characteristic scrotal shape. The Opitz syndrome of hypertelorism and hypospadias is somewhat similar but follows either autosomal dominant or X-linked inheritance. Hypodontia, or lack of one or a few permanent teeth, is extremely common and is often inherited as a variable autosomal dominant trait. Numerous studies have shown that cleft palate alone runs in most families separately from cleft lip with or without cleft palate. Mandibular hypoplasia, with or without cleft palate and with resulting respiratory obstruction from the tongue, may be part of a variety of skeletal or muscular syndromes, some Mendelian, or with 22q11 deletion.
