26th April 2013 .
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Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a pediatric congenital disorder of suspected genetic origin  with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births.
There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, and postnatal growth deficiency (83%). Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. They often suffer from recurrent ear infections in infancy.
In terms of development, mild to moderate intellectual disability is a common feature, seen in 92% of patients.
Also, children with Kabuki syndrome often have distinctive behavioural features. For example, 50% are described as unusually sociable, 30% as engaging in only minimal interaction with others, 74% as liking routine and 87% as having a happy disposition.
A few have normal intelligence, most of whom have learning difficulties such as struggling with fine motor, speech skills, and memory.