Syndromes with cephaloceles

Abstract

Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or associations. With the possible exception of the aberrant tissue band syndrome and the Meckel syndrome, little attention has been paid to syndromes with encephaloceles as a group. This paper discusses syndromes of known genesis, including the aberrant tissue band syndrome, Chemke syndrome, cryptophthalmos syndrome, dyssegmental dwarfism, frontonasal dysplasia, Knobloch syndrome, Meckel syndrome, pseudo-Meckel syndrome, von Voss syndrome, and warfarin syndrome. Associations include a wide range of anomalies that may occur with encephalocele. Some abnormalities are secondary to encephalocele formation; others represent primary noncontiguous embryonic malformations. Associated anomalies include absent corpus callosum, orofacial clefting, craniostenosis, Dandy-Walker defect, Arnold-Chiari defect, ectrodactyly, hemifacial microsomia, hypothalamic-pituitary dysfunction, Klippel-Feil anomaly, iniencephaly, and myelomeningocele. Finally, several other conditions with encephalocele are discussed. Some may represent true low-frequency associations; others are spurious.