The patient, born by cesarean delivery at 38 weeks' gestation and weighing 3760 g, was the first child (male) of healthy parents. Bilateral polydactyly was observed at birth (Figure, A). At 2 months of age, he was admitted to another hospital and developmental glaucoma was suspected based on findings of enlarged corneal diameter, ocular hypertension, and bilateral abnormal optic discs. At age 4 months, he was affected by an incomplete type of the mucocutaneous lymph node syndrome (Kawasaki disease), and myoclonic epilepsy appeared in the same period. Hydronephrosis in the right kidney and bilateral retained testis were also found. However, there were no other systemic abnormalities including the face, nose, teeth, umbilicus, fingernails, or hearing. Brain magnetic resonance imaging showed hypoplasia of the corpus callosum and mild cerebral atrophy of the frontal lobes.