Craniofacial dyssynostosis (CD) is a very rare syndrome caused by premature fusion of certain cranial sutures. It has been reported in the surgical literature as Mercedes Benz syndrome; named as such because of the characteristic appearance of the fused sutures on three-dimensional CT imaging. The condition is characterized by a dolicocephalic skull, protruding forehead, small, bulging or flat occiput, macrocephaly, maxillary hypoplasia, mental retardation, seizures, and a short stature. Certain other features may also be noticed in the condition, including severe global developmental delay, epilepsy, and oculomotor dyspraxia. Brain MRI may reveal agenesis of the septum lucidum and posterior portion of the corpus callosum, thinning of the gray matter, and gray matter heterotopia in cerebral hemispheres. Early diagnosis of the condition is important, as mental retardation may occur without early surgical intervention. In the case of timely surgical correction, normal development is seen.

Only a handful of patients have so far been reported with this condition. Two of the earliest patients reported were sisters, and some others were from consanguineous families, suggesting an autosomal recessive inheritance for the condition. Although the gene defect involved in the pathogenesis of the condition is not known, some researchers have suggested a higher allele frequency of the defect among the Spanish.