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$Title{Klippel-Feil Syndrome}
$Subject{Klippel-Feil Syndrome KFS Congenital Cervical Synostosis Klippel-Feil
Syndrome: Types I, II, and III Wildervanck Syndrome }
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Copyright (C) 1989 National Organization for Rare Disorders, Inc.

659:
Klippel-Feil Syndrome

** IMPORTANT **
It is possible that the main title of the article (Klippel-Feil Syndrome)
is not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     KFS
     Congenital Cervical Synostosis

Disorder Subdivisions:

     Klippel-Feil Syndrome:  Types I, II, and III

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

     Wildervanck Syndrome

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.

Klippel-Feil Syndrome is a rare, congenital disorder of the spine.  Major
symptoms may include a short neck, low hairline at the back of the head and
restricted mobility of the upper spine.  There may also be associated hearing
loss, neurologic, heart, kidney and breathing problems.

Symptoms

Three types of Klippel-Feil Syndrome have been identified.  Symptoms common
to all types include fusion of neck vertebrae, scoliosis (curvature of the
spine), and low hairline.

Children born with Klippel-Feil Syndrome Type I show massive fusion of
many neck and upper back vertebrae into bony blocks.  Type II is
characterized by fusion at only one or two interspaces (disks) such as the
first vertebra of the neck.

Type III is characterized by fusion in neck and back or lower back.  More
than half of the cases of Klippel-Feil Syndrome also have kidney defects.
The compression of vertebrae may also cause problems of the nervous system
and contribute to heart and lung conditions.  Following neurologic defects,
hearing loss is the second most common associated feature.  There is
increased danger of head and neck injury in children and adults who exhibit
craniocervical fusion.

Causes

Klippel-Feil Syndrome is inherited as an autosomal recessive 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 recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

Klippel-Feil Syndrome is a rare disorder that affects males and females in
equal numbers.

Related Disorders

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

Wildervanck Syndrome consists of congenital perceptive deafness, fused
cervical vertebrae and palsy of the eyes.  It primarily affects females.

Therapies:  Standard

Treatment of Klippel-Feil Syndrome is supportive and symptomatic.  Genetic
counseling may be of benefit for patients and their families.

Therapies:  Investigational

This disease entry is based upon medical information available through April
1989.  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 Klippel-Feil Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     NIH/National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
     Box AMS
     Bethesda, MD  20892
     (301) 495-4484

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, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 443, 1466.

AURAL ABNORMALITIES IN KLIPPEL-FEIL SYNDROME; I. Ohtani, et al.; Am J
Otol (November, 1985, issue 6 (6)).  Pp. 468-471.