Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin skullbone, generalized depressions on the frontoparietal and occipitoparietal sutures. It includes underdevelopment of the chin, exophthalmos, long bone cortical sclerosis, and puberty-onset progressive bone cortex thickening. It is inherited following an autosomal dominant inheritance pattern. Around 14 cases from 3 families worldwide have been described in medical literature.