home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0430
/
04306.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
9KB
|
210 lines
$Unique_ID{BRK04306}
$Pretitle{}
$Title{VACTERL Association}
$Subject{VACTERL Association VACTERL Vertebral anomalies Anal
atresia congenital Cardiac disease Tracheo Esophageal fistula Renal
radial dysplasia Limb defects VATER Association defects Tracheoesophageal
Townes-Brocks Syndrome Holt-Oram REAR}
$Volume{}
$Log{}
Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders,
Inc.
486:
VACTERL Association
** IMPORTANT **
It is possible the main title of the article (VACTERL Association) 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
VACTERL Syndrome
VACTERL Association
VACTERL is the acronym for: (V)ertebral anomalies, (A)nal atresia,
congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal
anomalies, radial dysplasia, and other (L)imb defects
DISORDER SUBDIVISIONS
VATER Association : (V)ertebral defects, (A)nal atresia,
(T)racheoesophageal fistula with (E)sophageal atresia, and (R)adial
dysplasia.
Information on the following diseases can be found in the Related
Disorders section of this report:
REAR Syndrome
Townes-Brocks Syndrome
Holt-Oram 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.
VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal
atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula,
(R)enal anomalies, radial dysplasia, and other (L)imb defects.
Abnormalities are present at birth. Symptoms occur in various combinations
and can be manifestations of several recognized disorders. Related
disorders such as the VATER Association and the REAR Syndrome, which are
composed of some of the same symptoms, have been expanded into the VACTERL
Association. Nearly all cases have occurred sporadically, although some
familial cases have been identified. Occasionally, other abnormalities may
accompany this association of symptoms.
Symptoms
Vertebral anomalies of the VACTERL Association can include divided spinal
disks, incomplete or half-developed spinal disks, and developmental
abnormalities of the tailbone (sacrum) which is the lowest section of the
vertebral column comprising part of the pelvis.
The absence of a normal opening (atresia) in the anus can also occur.
Abnormal passages from hollow organs to the body surface or to another organ
(fistulas) can develop between the lower section of the rectum and the
urethra (in males), or the vagina (in females). Fistulas may occasionally
be found in conjunction with congenital absence of the anus, usually in the
upper section of the rectum.
The most common heart (cardiac) abnormality is Ventricular Septal
Defect, which is a congenital defect in the wall (septum) between the two
ventricles of the heart, usually resulting from failure of the spiral septum
to close the interventricular aperture (foramen) normally. (For more
information on this disorder, please choose "Ventricular Septal Defect" as
your search term in the Rare Disease Database.)
Abnormal passages or openings (fistulas) can also occur between the
windpipe (trachea) and/or upper digestive tract (tracheo-esophageal
fistula). Occasionally, the esophagus may be absent at birth.
The most common kidney abnormality is the inborn absence (agenesis) of
the kidneys. In other cases, the kidney tissue may be over-developed.
Radial limb dysplasia includes any defect involving the radial side of
the arm such as underdevelopment of the thumb, the presence of three bones
(triphalangeal) in the thumb instead of the normal two, the presence of
extra fingers on one hand (polydactyly), and/or absence of some of the
fingers.
Some persons with VACTERL Association may not grow at a normal rate, but
mental development is usually normal.
Causes
VACTERL Association is a combination of developmental abnormalities which
are thought to occur sporadically. However, some scientists believe some
cases to be genetic. Abnormalities are presumed to be defects in the middle
(mesodermal) of three primary layers of the embryo during fetal development
due to a variety of causes.
Affected Population
VACTERL Association is a very rare combination of developmental
abnormalities which affects males in slightly greater numbers than females.
Related Disorders
Symptoms of the following disorders can be similar to those of VACTERL
Association. Comparisons may be useful for a differential diagnosis:
REAR Syndrome is an acronym for (R)enal anomalies, deformed external
(E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia.
Underdeveloped kidneys are the most common renal abnormalities. The
external ears are abnormally developed and deafness is present at birth.
The anus is constricted or smaller than normal and other anal abnormalities
can also occur. Abnormal tissue development is present in the area of the
bone in the forearm (radius) or upper arm.
Townes-Brocks Syndrome is characterized by the congenital lack of an
anal opening in association with hand, foot and ear abnormalities. An extra
joint in the thumb (triphalangeal thumb) and/or an extra thumb can be
present. In the feet, fusion of the long bones (metatarsals) may occur, or
some bones may be absent. External ears can be abnormally large or
"lopping" and mild sensorineural deafness can occur.
Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand
Syndrome, is a genetic disorder comprised of atrial septal defect in
association with hand and forearm deformities.
Therapies: Standard
Treatment of VACTERL Association by successive surgical rehabilitation of
malformations is often useful. Other treatment is symptomatic and
supportive.
Therapies: Investigational
The Titanium Rib Project is underway to implant expandable ribs in patients
with disorders involving missing, underdeveloped or otherwise malformed rib
cages, ribs or chest walls. Absent areas due to surgery or birth defects,
fused ribs or hypoplastic chests may be improved using the titanium ribs
which can be expanded as the child grows. Interested persons may contact:
Dr. Robert Campbell
Santa Rosa Children's Hospital
519 W. Houston St.
San Antonio, TX 78207-3198
(512) 567-5125
This disease entry is based upon medical information available through
September 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 VACTERL Association, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Center for Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals, contact:
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, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 67, 752.
A POPULATION STUDY OF THE VACTERL ASSOCIATION: EVIDENCE FOR ITS
ETIOLOGIC HETEROGENEITY: M.J. Khoury, et al.; Pediatrics (May 1983, issue
71(5)). Pp. 815-820.
TRACHEAL AGENESIS AND ASSOCIATED MALFORMATIONS: A COMPARISON WITH
TRACHEOESOPHAGEAL FISTULA AND THE VACTERL ASSOCIATION: J.A. Evans, et al.;
Am J Med Genet (May 1985, issue 21(1)). Pp. 21-38.
TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING
VACTERL ASSOCIATION: J.H. Hersh, et al.; Clin Pediatr (Phila) (February
1986, issue 25(2)). Pp. 100-102.