Kabuki Syndrome with Cleft Palate

Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this condition are distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and intellectual disability. Among these characteristics, the peculiar facial features that are common in all the patients presenting with Kabuki syndrome are the most striking and noticeable aspects of this syndrome. These include long palpebral fissures with lower lateral eyelid eversion, arched eyebrows with the lateral one-third dispersed or sparse, prominent ears, and a short columella with a depressed nasal tip. Because the facial appearance of a person with this syndrome resembles the makeup of Kabuki actors, this syndrome is called Kabuki syndrome. Along with cardinal manifestations, many additional features have been reported. Among these anomalies, cleft palate is a common feature reported in about half of the patients with Kabuki syndrome [3]. However, thus far, only a few reports have discussed cleft palate in Kabuki syndrome patients. The aim of this study is to discuss the cases of five patients of Kabuki syndrome with cleft palate and describe their characteristic facial features. Between March 2009 and February 2014, five patients (one boy and four girls) with cleft palate associated with Kabuki syndrome visited the plastic surgery clinic at our medical center. The age of the patients ranged from 10 months to 7 years. As shown in Figs. 1 and 2, all these patients had horizontally long palpebral fissures, eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed, prominent ears, and a low nasal tip, which corresponded to the peculiar facial features of Kabuki syndrome. The patients were diagnosed with Kabuki syndrome on the basis of these facial features and the accompanying anomalies. All five patients presented with developmental delays and congenital heart disease: two patients had a congenital atrial septal defect and one of them underwent surgical correction. Another patient had a history of ventricular septal defects, and the other two had a combination of coarctation of the aorta and a ventricular septal defect, and they all underwent surgery. Other associated anomalies such as congenital scoliosis, diaphragmatic hernia, and multicystic dysplastic kidney were observed in one patient each. None of the patients underwent a genetic evaluation to determine whether there were any MLL2 or KDM6A gene mutations. One patient underwent a genetic test of the ELN gene to rule out Kabuki Syndrome with Cleft Palate