Aim: To describe two cases of Kabuki syndrome (KS) and the relevant signs which aid in the diagnosis.
Methods: The cases arc documented with details of history, orthoptic and ophthalmic findings and the criteria by which KS is identified.
Results: KS is rare. The five main criteria used to define the syndrome are characteristic facial features, skeletal anomalies, dermatoglyphic anomalies, mental retardation and short stature. Five facial features arc a key element in the diagnosis. Both children reported had the characteristic facial features. In addition they were of short stature, had hearing loss, learning difficulties, and speech and language problems. Thirty to fifty per cent of children with KS will have ophthalmic involvement. One child presented to the eve clinic with ocular problems; the other was seen via the child development team.
Conclusion: Ocular problems are common in children with KS and these children will present to orthoptic departments for assessment. It is important for orthoptists to he aware of this syndrome.