Trigonocephaly 2 is an autosomal dominant disorder caused by mutations of the FREM1 gene. Melformations also include metopic craniosynostosis and in some patients microcephaly and hypertelorism.
Vissers LE et al. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.[^]
Swinkels ME et al. (2008) Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.[^]
OMIM.ORG articleOmim 614485 [^]