$Unique_ID{BRK03891} $Pretitle{} $Title{Kabuki Make-up Syndrome} $Subject{Kabuki Make-up Syndrome KMS Niikawakuroki Syndrome Aarskog Syndrome Coffin Lowry Syndrome KBG Syndrome Trichorhinophalangeal Syndrome Type II } $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 920: Kabuki Make-up Syndrome ** IMPORTANT ** It is possible that the main title of the article (Kabuki Make-Up Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms KMS Niikawakuroki Syndrome 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 General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kabuki Make-Up Syndrome is a rare disorder characterized by mental retardation, short stature, unusual facial features, abnormalities of the skeleton and unusual skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet. The majority of the reported cases of this disorder have occurred for no apparent reason (sporadic). However several cases have been cases have been reported to be inherited as an autosomal dominant trait. Symptoms 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. Causes 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 may 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 fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population 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. Cases of Kabuki Make-Up Syndrome have also been reported in Canada, Italy, Latin America, Germany, Lybia, and the United States. Related Disorders 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). Therapies: Standard 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. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders and birth defects in the future. This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kabuki Make-up Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203)-746-6518 NIH/National Institute of Child Health & Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 545. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 998-9.