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$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
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

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.