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$Unique_ID{BRK03699}
$Pretitle{}
$Title{Ellis-Van Creveld Syndrome}
$Subject{Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia Mesoectodermal
Dysplasia Ectodermal Dysplasias}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
902:
Ellis-Van Creveld Syndrome
** IMPORTANT **
It is possible that the main title of the article (Ellis-Van Creveld
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
Chondroectodermal Dysplasia
Mesoectodermal Dysplasia
Information on the following diseases can be found in the Related
Disorders section of this report:
Ectodermal Dysplasias
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.
Ellis-Van Creveld Syndrome is a rare genetic disorder characterized by
short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal
development of fingernails and, in over half of the cases, congenital heart
defects. This disorder is inherited through an autosomal recessive trait.
Symptoms
Patients with Ellis-Van Creveld Syndrome typically have arrested growth of
the long bones and a condition of stocky dwarfism. The arms and legs are
abnormally short while the head and trunk are normal. Extra fingers
(polydactyly) are present in all patients with Ellis-Van Creveld Syndrome.
Underdeveloped fingernails, a partial cleft lip, teeth at birth that erupt
and shed very early, knock-knees and abnormalities of the bones in the wrist
are all features of this disorder.
More than fifty percent of the patients with Ellis-Van Creveld Syndrome
are born with malformations of the heart. In the majority of cases there is
an abnormal opening in the wall between the two upper heart chambers (atrial
septal defect). A small number of patients with this disorder are born with
one of the chambers of the heart missing.
Other features that have been found in a few patients with Ellis-Van
Creveld Syndrome are:
Dandy-Walker Malformation - a hereditary disorder characterized by
developmental malformations caused by cysts on the fourth ventricle in the
brain. Cerebrospinal fluid accumulates in this ventricle causing the head to
become enlarged (hydrocephalus) due to excessive pressure. (For more
information on this disorder choose "Dandy-Walker" as your search term in the
Rare Disease Database).
Epispadias - a birth defect in boys in which the urine canal opens on the
underside of the penis.
Cryptorchidism - failure of one or both of the testicles to move down
into the scrotum.
Talipes Equinovarus - a condition in which the front half of the foot
turns in and down (clubfoot).
Mental retardation, scant or fine hair and/or failure of a kidney to
develop (renal agenesis).
Causes
Ellis-Van Creveld Syndrome is inherited through 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 not show 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
Ellis-Van Creveld Syndrome affects males and females in equal numbers.
More than 100 cases of Ellis-Van Creveld Syndrome have been found among
the Old Order Amish in Lancaster County, Pennsylvania.
Ellis-Van Creveld Syndrome has been reported in many other ethnic groups
but is very rare.
Related Disorders
Symptoms of the following disorder can be similar to those of Ellis-Van
Creveld Syndrome. Comparisons may be useful for a differential diagnosis:
Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes
in which the affected tissue derives primarily from ectodermal germ layer.
Symptoms of this disorder include eczema, poorly functioning sweat glands,
sparse or absent hair follicles, abnormal hair, disfigured nails, and
difficulties with the nasal passages and ear canals. Skin is satiny smooth,
prone to rashes, and slow to heal. Commonly, the teeth fail to develop
properly. Other complications may include hearing deficit, loss of sight,
mental retardation, limb abnormalities, cleft palate and lip, and urinary
tract anomalies. (For more information on this disorder, choose "Ectodermal
Dysplasias" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Ellis-Van Creveld Syndrome is directed at symptoms. Surgery may
be used to correct the knock-knees (genu valgum), partial cleft palate, and
the extra digits on the hands and/or feet.
Patients with the atrial septal defect may have surgery to close the hole
in the wall between the two upper heart chambers.
Treatment for patients with Dandy-Walker Syndrome consists of surgically
performing combined shunt procedures to the posterior ridge cyst and the
lateral ventricles, draining excess fluid from the inside of the brain.
Patients with mental retardation may benefit from special education.
Genetic counseling may be of benefit for patients and their families.
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 birth defects in the future.
This disease entry is based upon medical information available through
April 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 Ellis-Van Creveld Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
NIH/National Institute of Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301 496-5133
Parents of Dwarfed Children
11524 Colt Terr.
Silver Spring, MD 20902
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. 1161-62.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 324.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 322-23.
ELLIS-VAN CREVELD SYNDROME: REPORT OF 15 CASES IN AN INBRED KINDRED:
E.O. da Silva, et al.; J Med Genet (October 1980, issue 17(5)). Pp. 349-56.
BRIEF CLINICAL REPORT: CONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD)
WITH ANOMALIES OF CNS AND URINARY TRACT: S. Rosemberg, et al.; Am J Med
Genet (June 1983, issue 15(2)). Pp. 291-5.
DANDY-WALKER MALFORMATION IN ELLIS-VAN CREVELD SYNDROME: K.M. Zangwill,
et al.; Am J Med Genet (September 1988, issue 31(1)). Pp. 123-9.