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$Title{Klippel-Trenaunay Syndrome}
$Subject{Klippel-Trenaunay Syndrome Klippel-Trenaunay-Weber Syndrome KTW
Syndrome Angio-Osteohypertrophy Syndrome Congenital Dysplastic Angiectasia
Elephantiasis Congenita Angiomatosa Hemangiectatic Hypertrophy
Osteohypertrophic Nevus Flammeus Parkes-Weber Syndrome Sturge-Weber Syndrome}
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Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.

453:
Klippel-Trenaunay Syndrome

** IMPORTANT **
It is possible the main title of the article (Klippel-Trenaunay Syndrome)
is not the name you expected.  Please check the SYNONYMS listing on the next
page to find alternate names, disorder subdivisions, and related disorders
covered by this article.

Synonyms

     Klippel-Trenaunay-Weber Syndrome
     KTW Syndrome
     Angio-Osteohypertrophy Syndrome
     Congenital Dysplastic Angiectasia
     Elephantiasis Congenita Angiomatosa
     Hemangiectatic Hypertrophy
     Osteohypertrophic Nevus Flammeus

DISORDER SUBDIVISIONS

     Parkes-Weber Syndrome

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

Sturge-Weber 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-Trenaunay Syndrome is a blood vessel disorder combining Nevus
Flammeus (a birth mark which is the color of a port wine stain), excessive
growth of the soft tissue and bone, and varicose veins.  Cases range from
mild to severe with a variety of complications possible.   Onset usually
occurs before birth or during early childhood.

Symptoms

Seventy-five percent of Klippel-Trenaunay Syndrome cases involve wine colored
birthmarks called "nevus flammeus" or "port wine stains".  These birthmarks
are apparent at birth and tend to deepen in color with age.

Masses of veins, lymph vessels and capillaries (with or without thickened
walls) may be diagnosed before birth with the use of ultrasound tests.  In
eighty-five percent of affected patients, the limbs on one side of the body
are affected with these vascular lesions.  Usually one leg is affected,
although an arm, leg, or both may be involved.  Dilated varicose veins tend
to develop as substitute channels for obstructed underlying veins during the
first years of life.  The underlying veins may be absent or underdeveloped
and are often constricted by fibrous bands.

Gradual bone and soft tissue overdevelopment may occur underneath the
abnormal vessel masses.  An arm or leg (or both), is often lengthened to some
degree and may be enlarged in circumference as well.  Varicose veins are
present in all patients, although they may be hidden by swelling.  In a few
cases, swelling may occur as a result of compression or malformations of
lymph vessels.  Occasionally wasting (atrophy) may occur in the affected
limb.

Parkes-Weber Syndrome is a subdivision of Klippel-Trenaunay Syndrome
characterized by direct blood flow from veins to arteries, bypassing the
capillary networks (arteriovenous shunts).

A variety of complications can result from Klippel-Trenaunay Syndrome.
The overdevelopment of a leg can cause compensatory curvature of the spine
(Scoliosis) to occur.   Varicose veins can lead to skin ulcerations, swelling
and changes associated with constricted blood flow.  Other possible
dermatological changes may include eczema, atrophy, flesh colored warts,
connective tissue inflammation (cellulitis), and profuse sweating in
overlying skin areas.  Veins may become inflamed and possibly blocked by a
blood clot (Thrombophlebitis), but the clot is usually stationary and carries
little danger of traveling to the lungs.  Unexpected bleeding may develop in
the abnormal blood vessels and/or capillaries due to diminished amounts of
clotting factors in circulating blood.  When certain abdominal veins become
dilated, abnormal vein drainage may lead to bleeding in the rectum, vagina,
area around the vagina (vulva), or bladder.  Abnormal growths in the bladder
and colon may lead to bleeding as well, and may compress the spinal cord
possibly causing partial paralysis.

Other symptoms which may be associated with Klippel-Trenaunay Syndrome
include the presence of extra fingers with or without webbing, dilated veins
in the lungs, partial overgrowth of the face without the associated port wine
stain birthmark, an open spine (spina bifida), absence of the opening in the
ear canal, absence of fingers or toes, an abnormally small number of clotting
platelets in circulating blood (thrombocytopenia), an abnormally low
concentration of a clotting factor in circulating blood plasma
(hypofibrinogenemia), congenital dislocation of the hips, exceptionally large
feet, and bilateral undescended testes in males.  A few cases of this
disorder have occurred in conjunction with Sturge-Weber Syndrome.  (For more
information on Sturge-Weber Syndrome, see the Related Disorders section of
this report.)

Causes

The exact cause of Klippel-Trenaunay Syndrome is not known, although it is
presumed to be genetic.  Symptoms may develop due to a defect in fetal
development or a hereditary embryonic tissue weakness.

Affected Population

Klippel-Trenaunay Syndrome is a rare disorder affecting males and females in
equal numbers.  The disorder occurs worldwide.

Related Disorders

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

Sturge-Weber Syndrome is usually a dominant hereditary disorder in which
a port wine colored stain (angioma) on the face, and intracranial
abnormalities are present at birth.  Generalized seizures and additional
neurological symptoms usually occur between one and two years of age.
Vascular lesions (telangiectasias and angiomas) in the brain usually involve
the occipital or parieto-occipital regions.  Glaucoma may be present in the
eye located on the same side of the face where the port wine stain occurs.
This eye may also be enlarged.  The iris may remain blue, even though the
other eye may change to another color as the infant matures.  Sight in half
of the visual field may be defective or absent in the affected eye.   (For
more information on this disorder, choose "Sturge-Weber" as your search term
in the Rare Disease Database).

Therapies:  Standard

Treatment of Klippel-Trenaunay Syndrome is usually directed toward
controlling symptoms.  The port wine colored stain birthmark may be lightened
or removed with argon, yellow light, or carbon dioxide laser surgery.
Application of makeup may be helpful as a temporary measure for cosmetic
reasons.  When blood vessel abnormalities occur in the colon, surgical
resection of the intestines may be required.  Lesions in the bladder may be
removed by means of a high frequency electrical current aided by imaging with
a flexible lighted tube (cystoscope).

Children with port wine stain birthmarks, minimal varicose veins and an
oversized limb with a discrepancy of less than one centimeter usually require
no surgical intervention.  For patients with marked presence of varicose
veins, wearing elastic support stockings may be helpful.  Discrepancies in
leg length may be corrected by placing a lift in the shoe on the healthy foot
to prevent compensatory curvature of the spine (scoliosis).  Diuretics,
antibiotics, or iron supplements may be required for patients with
complications involving blood cell or connective tissue inflammation
(cellulitis), blood clots in veins (thrombophlebitis), recurrent bleeding or
anemia.  Ulcerations or eczema may require local treatment prescribed by a
dermatologist.

Surgical removal or stripping of varicose or underlying veins may not be
recommended because of possible complications or recurrences.  Orthopedic
procedures to correct extreme overgrowth of an affected limb may include
surgery.  If a discrepancy in leg length is found, X-rays should be taken and
compared every six months to determine timing of surgery to correct the bone
overgrowth.

Therapies:  Investigational

The Flashlamp-Pulsed Tunable Dye laser is showing very good results in the
treatment of port wine stain in the skin of children under age eighteen.
This treatment has shown little or no side effects.

This disease entry is based upon medical information available through
March 1990.  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-Trenaunay Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Klippel-Trenaunay Syndrome Support Group
     4610 Wooddale Ave.
     Edina, MN  55424
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     The Sturge-Weber Foundation
     P.O. Box 460931
     Aurora, CO  80046
     [phone]
     [phone]

     Sturge-Weber Support Group
     2036 Ridgewood Way
     Bountiful, Utah  84010
     [phone]
     [phone]

     Nevus Network
     1400 S. Joyce St., #C1201
     Arlington, VA  22202
     [phone]
     [phone]

     Giant Congenital Pigmented Nevus Support Group
     12 Twixt Hill Rd.
     Ridgefield, CT  06877
     [phone]

     Nevus Support Group
     58 Necton Rd.
     Wheathampstead, Herts
     AL4 8AU England

For Information on genetics and genetic counseling referrals, please
contact:

     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

CT FINDINGS IN SPLENIC HEMANGIOMAS IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME:
R.L. Pakter, et al.; J Comput Assist Tomogr (Jan.-Feb. 1987, issue 11(1)).
Pp. 88-91.

A RETROMEDULLARY ARTERIOVENOUS FISTULA ASSOCIATED WITH THE KLIPPEL
SYNDROME:  A CLINICOPATHOLOGIC STUDY:  N. Benhaiem-Sigaux, et al.; Acta
Neuropathol (Berl) (1985, issue 66(4)).  Pp. 318-324.

CORRECTION OF LEG INEQUALITY IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME:  M.
Peixinho, et al.; Int Orthop (1982, issue 6(1)).  Pp. 45-47.

SURGICAL IMPLICATIONS OF KLIPPEL-TRENAUNAY SYNDROME:  Peter P. Gloriezk,
et al.; Ann Surg (March 1983, issue 197).  Pp. 353.