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$Unique_ID{BRK03981}
$Pretitle{}
$Title{Meckel Syndrome}
$Subject{Meckel Syndrome Meckel-Gruber Syndrome Gruber Syndrome Dysencephalia
Splanchnocystica Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome)
Joubert Syndrome Potter's Syndrome Ullrich-Feichtiger Syndrome }
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
661:
Meckel Syndrome
** IMPORTANT **
It is possible that the main title of the article (Meckel Syndrome) is
not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Meckel-Gruber Syndrome
Gruber Syndrome
Dysencephalia Splanchnocystica
Information on the following diseases can be found in the Related
Disorders section of this report:
Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome)
Joubert Syndrome
Potter's Syndrome
Ullrich-Feichtiger 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.
Meckel Syndrome is a rare inherited disorder. Major symptoms may
include, congenital deformities of the brain resulting in mental retardation.
Malformations of the hands and feet, and bone deformities of the arms and
legs may also occur. In males genitals may fail to develop properly.
Kidney, pancreas and liver may also be abnormal.
Symptoms
The symptoms which identify Meckel Syndrome consist of brain abnormalities
and failure of the brain to fully develop. Additionally, cystic growths in
the kidneys and fibrous growths in the ducts of the liver and pancreas may
occur. More than five fingers on the hands may be present as well as more
than five toes on the feet and shortening or bowing of the long bones of the
arms and legs. In males the testicles may contain abnormal cysts and they
may fail to descend or grow properly.
Causes
Meckel Syndrome is inherited as 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 show no 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). Meckel Syndrome can be identified in pregnant women
during the fifth month of pregnancy either through ultrasound testing or by
checking cells taken from the fluid surrounding the fetus (amniocentesis).
Affected Population
Meckel Syndrome affects males and females in equal numbers. The incidence of
this syndrome worldwide varies from 1 in 140,000 to 1 in 9,000 births.
Higher than usual concentrations of people with Meckel Syndrome occurs in
India and Finland.
Related Disorders
Symptoms of the following disorders can be similar to those of Meckel
Syndrome. Comparisons may be useful for a differential diagnosis:
Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome), is a rare
hereditary neurological disorder characterized by a smaller than normal size
head, mental retardation, low pressure in the fluid of the eyes, incomplete
development of the male genitalia, short nose with displaced nostrils and a
smaller than normal size opening of the stomach (pyloric stenosis). (For
more information on this disorder, choose "Smith-Lemli-Opitz" as your search
term in the Rare Disease Database).
Joubert Syndrome is a very rare hereditary neurological disorder marked
by malformations of the area of the brain which controls balance and
coordination, neuromuscular and eye movement disturbances. Additionally,
psychomotor retardation, and/or respiratory abnormalities may develop. Some
of the symptoms may decrease with age. (For more information on this
disorder, choose "Joubert Syndrome" as your search term in the Rare Disease
Database).
Potter's Syndrome is a rare hereditary disorder marked by congenital
cysts of the Kidneys and liver. The patients also suffer from cerebral
hemorrhage, aortic aneurysm and high blood pressure.
Ullrich-Feichtiger Syndrome exhibits the same symptoms as Meckel Syndrome
with the addition of some facial deformities including small jaws and cleft
palate. It also is marked by extra fingers.
Therapies: Standard
Treatment of Meckel Syndrome is symptomatic and supportive. Genetic
counseling is recommended for families affected by this disorder.
Therapies: Investigational
This disease entry is based upon medical information available through April
1989. 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 Meckel 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 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, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp.606-607, 1096, 1250.
ARE BOWING OF LONG TUBULAR BONES AND PREAXIAL POLYDACTYOL SIGNS OF THE
MECKEL SYNDROME? F. Majewski, et al.; Hum Genet (1983, issue 65 (2)). Pp.
125-133.
THE MECKEL SYNDROME: CLINICOPATHOLOGICAL FINDINGS IN 67 PATIENTS; R.
Salonen, et al.; Am J Med Genet (August, 1984, issue 18 (4)). Pp. 671-689.
A NEW SYNDROME WITH FEATURES OF THE SMITH-LEMLI-OPITZ AND MECKEL GRUBER
SYNDROMES IN A SIBSHIP WITH CEREBELLAR DEFECTS: A.C. Casamassima, et al.; Am
J Med Genet (February, 1987, issue 26 (2)). Pp. 321-336.
STUDIES ON THE ELEVATED AMNIOTIC FLUID SP 1 IN MECKELS'S SYNDROME;
MODIFIED GLYCOSYLATION OF SP1; M. Heikinheimo, et al.; Placenta (July-August,
1987, issue 8 (4)). Pp. 427-432.