At the most severe end of the spectrum for FOXC1 disruption is De Hauwere syndrome, characterized by anterior segment anomalies, hypertelorism, short stature, hearing loss, hydrocephalus, joint hyperlaxity, and skeletal anomalies including hip dysplasia [3,4,5]. Here, FOXC1 is linked to Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities.