Trigonocephaly is a rare condition characterized by premature metopic sutural synostosis. As a result the head appears triangular viewed from above and there is marked hypotelorism. The prevalence is 1 in 10-15000 births with predominance of the males. There are syndromic and non-syndromic forms and the last accounts for almost 2/3 of the affected individuals. The etiology is extremely heterogeneous including autosomal recessive, autosomal dominant and X-linked form, chromosomal aberrations as well environmental factors. Over the years it turned out that many of the published cases reported as syndromic forms of trigonocephaly, for example Opitz-C syndrome, are the result of different chromosomal rearrangements, most recurrent of which are 7q, 9p and 11q subtelomeric deletions. This introduced the routine screening with locus specific subtelomeric probes as a common practice. In an aim to identify specific loci and/or genes for trigonocephaly, a group of patients with a syndromic form of this phenotype have been analyzed by CGH microarray. We will present the data of this survey and the phenotype-genotype correlations will be discussed. In addition, the efficiency of new gene hunting approaches exploring modern techniques for total genome screening available in our centre, like CGH array, will be presented.