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$Unique_ID{BRK03552}
$Pretitle{}
$Title{C Syndrome}
$Subject{C Syndrome Opitz Trigonocephaly Syndrome Trigonocephaly "C" Syndrome
Trigonocephaly Syndrome Trigonocephaly (autosomal dominant type)
Trigonocephaly (autosomal recessive) Trigonocephaly with Short Stature and
Developmental Delay}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
917:
C Syndrome
** IMPORTANT **
It is possible that the main title of the article (C 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
Opitz Trigonocephaly Syndrome
Trigonocephaly "C" Syndrome
Trigonocephaly Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Trigonocephaly (autosomal dominant type)
Trigonocephaly (autosomal recessive)
Trigonocephaly with Short Stature and Developmental Delay
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.
C Syndrome is a rare disorder thought to be inherited as an autosomal
recessive trait. Patients with this disorder are born with a malformation in
which the head is a triangular shape due to premature union of the skull
bones (trigonocephaly), a narrow pointed forehead, a flat broad nasal bridge
with a short nose, vertical folds over the inner corner of the eye, an
abnormal palate that is deeply furrowed, abnormalities of the ear, crossed
eyes (strabismus), joints that are bent or in a fixed position, and loose
skin. All recorded patients except one have had mental retardation.
Symptoms
One of the distinguishing features of C syndrome is a condition in which the
skull is a triangular shape primarily due to premature closure of the bones
(trigonocephaly). Patients with this disorder also have a distinct face in
which the nasal bridge is broad with a short nose, and there are vertical
folds over the inner corners of the eyes (epicanthus). A deeply furrowed
palate in the mouth, abnormalities of the outer ear, crossed eyes
(strabismus), joints that may be bent in a fixed position or dislocated, and
loose skin are all features typically found in patients with C Syndrome.
Epicanthus, retardation, loss of muscle tone, abnormalities of the sternum,
facial palsy, webbed fingers and/or toes, short limbs, heart defects, failure
of one or both testicles to move down into the scrotum (cryptorchidism),
abnormalities of the kidneys and lungs, deformity of the lower jaw and/or
seizures may also be found in patients with C Syndrome.
Causes
C Syndrome is thought to be 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 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
C Syndrome is a very rare disorder that affects males and females in equal
numbers. There have been approximately twenty-five cases reported in the
medical literature.
Related Disorders
Symptoms of the following disorders can be similar to those of C Syndrome.
Comparisons may be useful for a differential diagnosis:
Trigonocephaly (autosomal dominant type) is a rare disorder inherited as
an autosomal dominant trait. Patients with this disorder are born with a
triangular shaped skull partially caused by premature closure of the bones
which can cause compression of the brain. A small head and skin tags on the
ears have been found in several cases. Mental development is normal in all
cases. This disorder affects males five times more often than females.
There have been six patients from one family reported in the medical
literature.
Trigonocephaly (autosomal recessive) is a rare disorder that is inherited
as an autosomal recessive trait. Patients with this disorder are born
without the nerve fibers that are related to the sense of smell, as well as a
malformation in which the skull is a triangular shape partially caused by
premature closure of the bones (trigonocephaly). There have been multiple
affected siblings reported in the medical literature.
Trigonocephaly with Short Stature and Developmental Delay is a rare
disorder inherited as an X-Linked trait. This disorder has been
characterized by a malformation in which the skull is a triangular shape
partially caused by premature closure of the bones of the skull
(trigonocephaly), short stature and moderate mental retardation in three
males recorded in the medical literature. The other two related patients had
a closed space between the bones at the back of the skull, a narrow forehead,
widely spaced eyes, a small head circumference, low weight, and slow mental
and physical development.
Typically the borders or joints of the skull close between the ages of 28
and 32 years. Patients with Trigonocephaly with Short Stature and
Developmental Delay have closure between the ages of 2 and 3 years. There
have been five related patients described in the medical literature and all
were males.
Therapies: Standard
When Trigonocephaly is severe surgery may be performed to relieve the
pressure on the brain and cosmetically improve facial appearance. Other
treatment is symptomatic and supportive.
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 genetic disorders in the future.
This disease entry is based upon medical information available through
May 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 C Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
(800) 535-3643
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
NIH/Niational 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, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 943, 1072-3, 1515, and 1731.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 251-52.
MODIFICATION IN THE SURGICAL CORRECTION OF TRIGONOCEPHALY: A.M. Sadove,
et al.; Plast Reconstr Surg (June, 1990, issue 85(6)). Pp. 853-8.
"C" TRIGONOCEPHALY SYNDROME: CLINICAL VARIABILITY AND POSSIBILITY OF
SURGICAL TREATMENT: F. Lalatta, et al.; Am J Med Genet (December, 1990,
issue 37(4)). Pp. 451-6.