Craniofacial dysplasia - osteopenia syndrome

A disorder of development or morphogenesis caused by a variation in the IRX5 gene and characterized by craniofacial dysmorphism, including high-severity hypertelorism, severe myopia, upslanting palpebral fissures, brachycephaly, atypical ears, sloping shoulders, enamel hypoplasia, osteopenia with chronic fractures, sensorineural hearing loss, and intellectual disability/borderline intelligence.