Information on the following diseases can be found in the Related Disorders section of this report:

• Aarskog Syndrome
• Coffin Lowry Syndrome
• KBG Syndrome
• Trichorhinophalangeal Syndrome, Type II

One of the most distinguishing features of Kabuki Make-Up Syndrome is the unusual facial features. The opening between the upper and lower eyelids is abnormally long and one third of the lower eyelid is turned outward. The tip of the nose may be broad and depressed and the ears may be large and malformed. The eyebrows of patients with Kabuki Make-Up Syndrome may be high and arched. The palate of the mouth may be cleft or have a high arch, and the upper and lower teeth may not meet properly (malocclusion). These unusual facial features resemble the make-up of actors in a Japanese traditional play called "Kabuki".

Many patients with Kabuki Make-Up Syndrome have a sideways curvature of the spine, a short fifth finger that curves inward, and abnormalities of the vertebrae, hands and hip joint.

All patients with Kabuki Make-Up Syndrome have mental retardation ranging from mild to severe. Short stature and abnormal skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet are common.

Early development of breasts in females and heart defects have been found in a few patients with Kabuki Make-Up Syndrome.

The majority of cases of Kabuki Make-Up Syndrome are thought to occur for no apparent reason (sporadic). Three patients recorded in the medical literature had abnormalities on the Y chromosome, leading researchers to believe it could possibly be inherited as an autosomal dominant trait.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Kabuki Make-Up Syndrome is a very rare disorder that affects males and females in equal numbers. There have been seventy cases reported in the medical literature. The majority of cases have occurred in people of Japanese ancestry. However, cases of Kabuki Make-Up Syndrome have also been reported in Canada, Italy, Latin America, Germany, Lybia, and the United States.

Symptoms of the following disorders can be similar to those of Kabuki Make-Up Syndrome. Comparisons may be useful for a differential diagnosis:

Aarskog Syndrome is a very rare genetic disorder marked by distinctive structural abnormalities. Major symptoms may include stunted growth, broad facial features, short broad hands and feet, genital abnormalities and mild mental retardation. This disorder affects males more often than females and the symptoms tend to be more serious in males. (For more information on this disorder, choose "Aarskog Syndrome" as your search term in the Rare Disease Database.)

Coffin Lowry Syndrome is a rare disorder characterized by short stature, facial abnormalities, lax joints, low muscle tone, and retardation in physical and mental development. Some symptoms of this disorder may be more severe in males than in females. This disorder is inherited as an X-Linked semi-dominant trait. (For more information on this disorder, choose "Coffin Lowry Syndrome" as your search term in the Rare Disease Database.)

KBG Syndrome is a very rare disorder inherited as an autosomal dominant trait. Symptoms of this disorder are mental retardation, short stature, an unusual face with bow shaped lips and abnormalities of the skeleton. KBG Syndrome affects males and females equally.

Trichorhinophalangeal Syndrome , Type II is a rare disorder characterized by facial abnormalities and mild to moderate mental retardation in most cases. Loose wrinkled skin and multiple bony bumps (exostoses) develop, usually by the third or fourth year of life. Delayed speech, hearing loss, respiratory infections and hip dislocations may also occur. (For more information on this disorder, choose "Trichorhinophalangeal Syndrome" as your search term in the Rare Disease Database.)

Patients with Kabuki Make-Up Syndrome may benefit from orthopedic care for prevention of scoliosis. Physical therapy and cosmetic surgery may also be helpful.

Physical therapy may benefit in the prevention of scoliosis.

Genetic counseling may be of benefit for patients and their families.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 147920; Last Update: 10/21/99.

TEXTBOOKS
Thoene JG., ed. Physicians’ Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc; 1995: 89.

Buyce ML., ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990: 998-99.

REVIEW ARTICLES
Kasuya H, et al., Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst. 1998;14:230-35.

Galan-Gomez E, et al., Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet. 1995;59:276-82.

Ilyina H, et al., Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new cases. Am J Med Genet. 1995;56:127-31.

JOURNAL ARTICLES
Di Gennaro G, et al., Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol. 1999;21:566-68.

Tsukahara M, et al., Dominant inheritance in Kabuki make-up syndrome. Am J Med Genet. 1997;73:19-23.

Ho HH, et al., Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. Dev Med Child Neurol. 1997;39:487-90.

Kobayashi O, et al., Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet. 1996;61:92-93.