Although GCPS and PHS have some distinct clinical presentations (GCPS is characterized by polysyndactyly, macrocephaly, hypertelorism, and PHS is characterized by hypothalamic hamartoma, bifid epiglottis, and insertional polydactyly), the apparent lack of GLI3 genotype-phenotype correlation occasionally precludes clear phenotypic classification [5]. This evidence concerns the gene GLI3 and Pallister-Hall syndrome.