Kabuki syndrome

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. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals to stage makeup used in Kabuki, a Japanese traditional theatrical form.

Description

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, urinary tract anomalies, hearing loss, hypotonia, recurrent ear infections and postnatal growth deficiency. Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns.

In terms of development, mild to moderate intellectual disability is a common feature. Also, children with Kabuki syndrome often have distinctive behavioral features. A few have normal intelligence, most of whom have learning difficulties such as struggling with fine motor, speech skills, and memory.