A 10-year-old girl presented with mild developmental delay with poor scholastic performance. Her facial features included wide palpebral fissure, long thick eye lashes arched eyebrows, everted lower eyelids in their lateral portion, flat nasal tip and prominent ears (Fig. 1) She had generalized muscular hypotonia with lax joints. Her cardiac evaluation revealed presence of coarctation of aorta. Her facial features suggested the diagnosis of Kabuki Makeup Syndrome.

Fig. 1. Kabuki Makeup syndrome - Characteristic facies.

"Kabuki Makeup syndrome" gets its name due to the facial resemblance to the makeup of actors in Kabuki, a traditional Japanese Theatre. The children with Kabuki syndrome have characterstic facial features, most notably, large eyes, long and thick eyelashes, arched eyebrows, flat nasal tip and prominent ears. Cleft lip/palate or high arched palate may cause feeding and speech difficulties. They have hypotonia and joint laxity. Most children have mild to moderate intellectual disability and nearly 50% of them have hearing loss (sensory and conductive type). Seizures occur in few cases. Short fifth finger, finger pads, scoliosis, and hip dislocation are other features noted in this syndrome. At least 30% of the children have heart defects (ASD, COA, VSD and PDA) and many have kidney and urinary tract anomalies (cryptorchidism, micropenis, fused kidney and uretero pelvic obstruction). The inherit-ance is supposed to be autosomal dominant with variable expression and most cases occurring as sporadic instances.

M.L. Kulkarni,
2373, M.C.C. ‘A’ Block,
Davangere 577 004,
Karnataka,
India.