What is Kabuki Syndrome?

Kabuki syndrome (also known as KMS, Kabuki makeup syndrome or Niikawa Kuroki syndrome) is a rare genetic disorder. Its occurrence is estimated at 1 in 32,000 births. KS was named as "Kabuki makeup" since patients with KS share some common facial traits that resemble the makeup of actors in Kabuki, the traditional Japanese theater. Today the word “makeup” has been dropped, and it is usually known as Kabuki syndrome.

KS is a complex syndrome. People with the Kabuki syndrome genetic disorder may have one or more of the following signs and symptoms. Some are more frequent than others.

Kabuki Syndrome Signs and Symptoms:

Facial features:

• arched eyebrows with sparse outer lateral half
• long eyelashes
• blue sclerae
• drooping of upper eye lid
• depressed nasal tip
• cleft lip/palate or arched palate
• dysmorphic ears
• preauricular pits (dimples in front of ears)
• abnormal dentition

Muscoskeletal features:

• short fingers
• short middle phalanx of fifth finger
• syndactyly - mild webbing between fingers
• cranial abnormalities
• vertebral abnormalities
• rib anomalies
• scoliosis
• hypotonia
• joint laxity
• dislocations of hip, patella and shoulders

Behavioral Issues:

Intellectual disability (moderate to mild) is observed in KS patients. Problems with speech are also present. Language acquisition is usually delayed. People with Kabuki may have aversion to odors and may react violently to certain sounds. Although KS sufferers appear to have excellent memories they tend to fixate on things and thoughts, and autistic type behaviors are usually seen. Depression has been reported in some young adults.

Life span of Kabuki patients is not shortened by the complex symptoms seen in patients. However, the disease needs constant management throughout the patient’s life.

Although it is known that KS is a genetic disorder there is not a clear understanding of the genetic cause of the disease. A study (Milunsky et. al 2003) found that submicroscopic duplication on the 8th chromosome at 8p22-23.1 is a common feature in KS patients. However, this research has not been able to be corroborated by further investigation. Further research by Kuniba et al. (2009) detected seven gene alterations - three deleted regions and four duplicated regions - among 17 patients with KS. Also, mutation screening has detected 10 base substitutions consisting of seven single nucleotide polymorphisms (SNPs) and three silent mutations in 41 patients with KS.

Kabuki Syndrome is a rare genetic disorder and poorly understood syndrome. Its genetic cause is unknown and research is ongoing. Perhaps when there is certainty about the specific genetic disorders more appropriate treatments can be devised for this disease.

Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y. 2003. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome" - Clin Genet. 7 May;73(5): 502-503

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.