Chromosome 18p deletion syndrome, as the name suggests, is a result of a deletion of all or part of the short arm of chromosome 18. It is one of the most frequently occurring chromosomal aberrations. The condition is characterized by dysmorphic features, growth deficiencies, speech delays, and mental retardation. Interestingly, affected individuals show minimal abnormalities at birth; the clinical features becoming more apparent by three-years of age. Craniofacial defects presented in this condition include holoprosencephaly, microcephaly, brachycephaly, ocular hypertelorism, broad, flat nose, cleft palate, and tooth abnormalities. Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck. The severity of the phenotype varies according to the length and type of deletion.