home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0357
/
03574.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
8KB
|
183 lines
$Unique_ID{BRK03574}
$Pretitle{}
$Title{Caudal Regression Syndrome}
$Subject{Caudal Regression Syndrome Caudal Dysplasia Caudal Dysplasia Sequence
Sacral Agenesis Congenital Sacral Regression Sirenomelia Sequence}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
898:
Caudal Regression Syndrome
** IMPORTANT **
It is possible that the main title of the article (Caudal Regression
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
Caudal Dysplasia
Caudal Dysplasia Sequence
Sacral Agenesis, Congenital
Sacral Regression
Information on the following diseases can be found in the Related
Disorders section of this report:
Sirenomelia Sequence
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.
Caudal Regression Syndrome is a rare disorder characterized by abnormal
development of the lower (tail) end of the fetus. A wide range of
abnormalities may occur from partial absence of the tailbone end of the spine
causing no apparent symptoms, to extensive abnormalities of the lower
vertebrae, pelvis, and spine. Neurological impairment as well as inability
to control urination and bowel movements (incontinence) may occur in severe
cases.
Symptoms
Caudal Regression Syndrome is characterized by abnormal development of the
tail (caudal) end region of the developing fetus. Abnormalities associated
with this disorder may include partial absence of the tailbone (Coccyx) end
of the spine which usually causes no symptoms, and/or a wide range of
developmental abnormalities predominantly involving the lower portion of the
body.
Patients with Caudal Regression Syndrome may have some of the following
symptoms: absence or underdevelopment of the lower vertebrae, pelvis and/or
tailbone at the end of the spine; paralysis or numbness of the legs; an
difficulty in controlling bowel movements and urination; dislocation of the
hip; joints in a permanently fixed position; underdeveloped muscles; abnormal
growth of the thighbone; a clubfoot; intestines that are twisted; defects of
the anal and urinary systems; multiple cysts or partial fusion of the
kidneys; swelling of the pelvis due to a blockage in the urinary system;
displacement of the external sex organs; and/or a defect in which the urinary
opening is on the underside of the penis (hypospadias).
Less common abnormalities found in some patients with Caudal Regression
Syndrome may be: an abnormal amount of spinal fluid in the head
(hydrocephaly); partial or complete absence of the gland that supplies
hormones (pituitary gland); cleft palate or lip; an underdeveloped or small
lower jaw; a downward displacement of the tongue; defects of the heart;
and/or more than the normal number of fingers and/or toes.
Causes
The exact cause of Caudal Regression Syndrome is not known in most cases.
Nearly sixteen percent of the patients afflicted with this disorder have had
mothers that were diabetic. Autosomal dominant inheritance has been
suggested in some cases. 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
Caudal Regression Syndrome is a rare disorder that affects males and females
in equal numbers.
Approximately sixteen percent of the patients born with Caudal Regression
Syndrome have mothers afflicted with diabetes.
It is estimated that Causal Regression Syndrome will affect approximately
three out of every one hundred thousand live births.
Related Disorders
Symptoms of the following disorders can be similar to those of Caudal
Regression Syndrome. Comparisons may be useful for a differential diagnosis:
Sirenomelia Sequence is a rare disorder characterized by irregular
development of the lower limbs. The deformity is present at birth, usually
as a single lower extremity or as two legs that are joined together.
Accompanying malformations of the spine and skeletal system, with vertebrae
either absent or defective, commonly occur. (For more information on this
disorder, choose "Sirenomelia Sequence " as your search term in the Rare
Disease Database).
Therapies: Standard
Caudal Regression Syndrome can be detected in a fetus during the second
trimester of pregnancy by ultrasound.
Orthopedic devices may be used to help problems of the hip, back and
legs.
Problems such as an imperforate anus, hydrocephaly, cleft palate or lip,
and extra fingers or toes can be improved or corrected with surgery.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
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 in the future.
This disease entry is based upon medical information available through
July 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 Caudal Regression 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 and Human Development
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 10505
(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. 871-2.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 575.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 296-7.
PARTIAL TRANSPOSITION OF THE PENIS AND SCROTUM WITH ANTERIOR URETHRAL
DIVERTICULUM IN A CHILD BORN WITH THE CAUDAL REGRESSION SYNDROME: A.M.
Shanberg, et al.; J Urol (October, 1989, issue 424. Pp. 1060-2.