home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0397
/
03972.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
10KB
|
233 lines
$Unique_ID{BRK03972}
$Pretitle{}
$Title{Marshall Syndrome}
$Subject{Marshall Syndrome Deafness-Myopia-Cataract-Saddle Nose Marshall Type
Spondyloepiphyseal Dysplasia Congenita Congenital Syphilis Stickler Syndrome
Wagner Syndrome }
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
879:
Marshall Syndrome
** IMPORTANT **
It is possible that the main title of the article (Marshall 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
Deafness-Myopia-Cataract-Saddle Nose, Marshall Type
Information on the following diseases can be found in the Related
Disorders section of this report:
Spondyloepiphyseal Dysplasia Congenita
Congenital Syphilis
Stickler Syndrome
Wagner 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.
Marshall Syndrome is a rare genetic disorder. Major symptoms may include
a distinct face with a flattened nasal bridge and nostrils that are tilted
upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.
Marshall Syndrome is inherited as an autosomal dominant trait.
Symptoms
Patients with Marshall Syndrome have a distinct flat sunken midface with a
flattened nasal bridge (saddle nose), nostrils that turn upward, and a wide
space between the eyes (hypertelorism). The domelike upper portion of the
skull (calvaria) is thicker than normal and calcium deposits can be found in
the skull (cranium). Eye defects found in patients with Marshall Syndrome
are nearsightedness, a disease of the eye in which the lens loses it's
clearness (cataract), and a wide space between the eyes making the eyeballs
appear to be larger then normal. Hearing loss may be slight or severe and is
due to nerve damage distorting sound (sensorineural).
Other symptoms that have been found in some patients with Marshall
Syndrome are: crossed eyes (esotropia), a condition in which the line of
vision is higher in one eye than the other (hypertropia), retinal detachment,
glaucoma, protruding upper incisors (teeth) and a smaller than normal or
missing nasal bone.
Causes
Marshall Syndrome is 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
Marshall Syndrome affects males and females in equal numbers. There have
been only approximately 21 cases of this disorder reported in the medical
literature.
Related Disorders
Symptoms of the following disorders can be similar to those of Marshall
Syndrome. Comparisons may be useful for a differential diagnosis:
Spondyloepiphyseal Dysplasia Congenita (SED Congenita) is a rare
hereditary disorder with symptoms that can range from mild to severe. It is
characterized by flat facial features, nearsightedness (myopia), retinal
detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and
normally sized hands and feet. This disorder is inherited as an autosomal
dominant trait. (For more information on this disorder, choose
"Spondyloepiphyseal Dysplasia Congenita" as your search term in the Rare
Disease Database).
Congenital Syphilis is a chronic infectious disease caused by a
spirochete (treponema pallidum) acquired by the fetus in the uterus before
birth. Symptoms of this disease may not show up until several weeks or
months after birth and in some cases they may take years to appear.
Congenital Syphilis is passed on to the child from the mother who acquired
the disease prior to or during pregnancy. Symptoms of early congenital
Syphilis include fever, skin problems and low birth weight. In Late
Congenital Syphilis the symptoms of the disease do not usually become
apparent until two to five years of age. Symptoms of Late Congenital Syphilis
may be bone pain, peg-shaped upper central incisors (teeth), blurred vision,
eye pain and insensitivity to light, saddle nose, bony prominence of the
forehead, short upper jaw bone and deafness. In rare cases the disease may
remain latent for years with symptoms not being diagnosed until well into
adulthood. (For more information on this disorder, choose "Congenital
Syphilis" as your search term in the Rare Disease Database).
Stickler Syndrome is a rare genetic disorder inherited as an autosomal
dominant trait. This disorder is characterized by congenital abnormalities
of the eye, a small jaw and a cleft palate. Degenerative changes in some
joints with bone abnormalities may occur early in life. In the past some
scientists felt that Marshall Syndrome and Stickler Syndrome were the same
disorder. It is now thought that there are distinct differences between the
two. Patients with Stickler Syndrome have flat cheekbones and a small jaw
which is often described as a flat midface. Patients with Marshall Syndrome
have a retracted midface with abnormal frontal sinuses and calcification in
the skull. Patients with Stickler Syndrome have a cleft palate while
patients with Marshall Syndrome rarely are afflicted with this condition.
Deafness is rarely a part of Stickler Syndrome and is often a major part of
Marshall Syndrome. (For more information on this disorder, choose "Stickler
Syndrome" as your search term in the Rare Disease Database).
Wagner Syndrome is a rare disorder inherited as an autosomal dominant
trait. This disorder can be expressed in mild, moderate or severe form. It
is characterized by facial abnormalities, an underdeveloped jaw, saddle nose,
cleft palate, and vision abnormalities. Joint hyperextensibility in the
fingers, elbows and knees, and hip deformities may also occur. Patients with
Wagner Syndrome do not have retinal detachment as do the patients with
Marshall and Stickler Syndromes.
Therapies: Standard
Marshall Syndrome is treated according to the specific symptoms. Plastic
surgery can be performed to improve the saddle nose.
Surgery is used to remove some types of cataracts. The lens is removed
and may be replaced with an implant. A patch is then worn temporarily.
Contact lenses may help improve sharpness of vision. Laser techniques are
used to loosen either the cornea, the lens capsule, or other material when
they are adhering to the lens.
The use of a hearing aid may be beneficial in some cases.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
After the removal of the affected lens in children with congenital cataracts,
an intraocular lens (IOL) may be implanted. If technically feasible, the IOL
is implanted in the lens capsule. More research is needed before this
implantation can be used more generally to preserve vision and reduce double
vision.
This disease entry is based upon medical information available through
January 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 Marshall Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812
(203) 746-6518
National Association for Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
615-266-1632
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Foundation for Facial Reconstruction
550 First Ave.
New York, NY 11016
(212) 340-6656
American Society for Deaf Children
814 Thayer Avenue
Silver Spring, MD 20814
(301) 585-5400 Voice/TTY
PACK (Parents of Cataract Kids)
179 Hunters Lane
Devon, PA 19333
(215) 293-1917
(215) 721-9121
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
301-496-5133
NIH/National Eye Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5248
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. Pp. 108-9, 480, 601.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 212.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 504-5.