Patients with Kabuki syndrome, also called Kabuki make-up syndrome (KMS) have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, finger-tip pads, and renal/urinary tract anomalies.
Mutations of the KMT2D (MLL2) gene were reported in 35/53 (66%) patients with Kabuki syndrome. KMT2D encodes a Trithorax-group histone methyltransferase that belongs to the SET family.
Deletions and/or duplications in the KMT2D gene as causative of Kabuki syndrome have been reported.