Kabuki syndrome (KS) is a rare genetic disorder whose main clinical signs are multiple organ abnormalities and mental retardation. Niikawa et al. and Kuroki et al. simultaneously described this syndrome in a group of patients in 1981 [1,2]. Genetic transmission of KS is autosomal dominant in more than 50% of patients with an estimated incidence of 1 in 32,000 .
Niikawa et al. suggested the name of “Kabuki make-up syndrome” because the facial features of these patients were like the make-up actors in a Kabuki dance-drama in traditional Japanese theatre . The facial features are characterized by an eversion of the lower lateral eyelid with long palpebral fissures, arched eyebrows, short columella, depressed nasal tip, and prominent ears.
Children with KS tend to develop obesity in later childhood . These children may also have cardiovascular defects (atrial septal defect, coarctation of the aorta, patent ductus arteriosus, and transposition of the great vessels) with an incidence of 30–50% . These patients also have susceptibility to infections such as recurrent otitis media, upper respiratory tract infections, and pneumonia . Van Haelst et al. reported two cases, one with stenosis of the central airways and extrahepatic biliary atresia, the other with a congenital diaphragmatic hernia and severe bronchomalacia . Another case with a tracheobronchial tree abnormality was a 6-year-old child who presented with a right upper lobe bronchus originating from the trachea (tracheal bronchus) . Another patient was reported with a small larynx . Oto et al. reported a pulmonary haemorrhage in an adult patient with KS who presented with Henoch-Schönlein purpura; however, the authors were unsure about the relationship between the Henoch-Schönlein purpura and the KS. They attributed this complication to pulmonary hypertension secondary to an atrial septal defect . Also, a latex allergy was reported in a single case .
The diagnosis for KS is primarily established by clinical findings. Mutations in the KMT2D gene (MLL2 gene) or the KDM6A gene have been reported. While a mutation in the KMT2D gene is inherited in an autosomal dominant pattern, a mutation in the KDM6A gene is inherited in an X-linked dominant pattern .