The subtypes of nonsyndromic ('isolated') craniosynostosis are denominated according to the predominant deformity resulting from premature fusion of one of the major cranial sutures: scaphocephaly, trigonocephaly, anterior plagiocephaly, brachycephaly, posterior plagiocephaly, and oxycephaly. In most cases the underlying causes remain unknown although there is some overlap with syndromic craniosynostosis suggesting heterogeneous etiologies. In contrast to the oversimplified nomenclature, isolated craniosynostosis may involve two or more sutures at the same time or may progress with increasing age, thus indicating that the basic nature of craniosynostosis is a failure of growth regulation of the skull rather than a malformation.

Muenke syndrome is defined by the presence of the p.P250R mutation in FGFR3, and is an autosomal dominant disorder with incomplete penetrance and variable expressivity. Typical manifestations of Muenke syndrome include coronal craniosynostosis, hearing loss, developmental delay/cognitive impairment, and relatively minor hand and foot anomalies. Clinical diagnosis is difficult because of phenotypic overlap and diagnosis is always made by molecular testing. Optimal management of patients involves a coordinated, multidisciplinary team familiar with the condition.