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News
<9-2004> 2006 Conference Information is now available
<2-2004> The next conference is being planned for Summer 2006 in Chicago,
Illinois.
<7-2002> Opitz Trigonocephaly Syndrome Family Conference
was held July 25-27, 2002 in New Orleans, LA. Opitz-C is no longer
believed to be autosomal recessive. The syndrome is
now thought to be caused by gonadal
mosaicism.
<2-6-99> The previous transcript from the Opitz Family Conference has
been replaced with a summary written by Dr.
Bohring .
<8-1-98> Pictures
from the Conference are now online!
OTSFN Family Conference 2002
First International Opitz Trigonocephaly Syndrome Family (OTSFN) Conference
July 25-27, 2002 in New Orleans, LA
2002 was the first conference held solely for families of children with Opitz-C
syndrome. The previous conference in 1998 was for families of children affected
by all the Opitz related syndromes. After the 1998 conference a decision was made
for the different groups to meet separately.
The conference was held at the Oschner Medical center and featured workshops and
a talk by Dr. Duane Superneau. Audio recordings of the conference are available
by request. The big news from Dr. Superneau's talk is that Opitz-C is no longer
believed to be autosomal recessive, meaning that there is not a 25% chance that
a couple who has had one child with Opitz-C will have another. The syndrome is
now thought to be caused by gonadal
mosaicism.
Opitz Family Conference 1998
First International Opitz Family Conference June 4-7, 1998 Salt Lake City, Utah
The conference was a big success. There were 62 families from 10 countries in
attendance. We got to meet a lot of really great people from all over the world.
As always it was nice to put faces with names and finally meet people who we had
communicated with over the net or the telephone. In the near future we will be
adding pictures and other memorabilia from the conference to the OTSFN page.
Dr. Axel Bohring of Utin, Germany was the guest speaker for the C Syndrome break
out session on Friday, June 5. Dr. Bohring is an expert on the C Syndrome and
is currently doing research with Dr. Opitz and Dr. Max Muenke of Bethesda, Maryland.
Dr. Muenke is currently working to map the gene that causes C Syndrome. According
to estimates we heard at the conference, the gene mapping process will take three
to five years. My understanding is that once the gene is mapped a test will be
available to determine if someone is a carrier of the syndrome. During his talk
Dr. Boring gave background information on the syndrome and discussed the latest
research. One of the newest discoveries is that there are four variations of C
Syndrome. As we will let you know when we find out more about the variations.
For all of the families we spoke with the highlight of the conference was the
trip to Primary Children�s Medical Center. Each family had the opportunity to
meet with a geneticist who is an expert on their particular syndrome. The doctors
and the families learned a great deal from one another. Quite a few of the families
were surprised to receive a new diagnosis. There were a number of new C Syndrome
diagnoses. Since the conference there are now a total of 31 C Syndrome families.
There are plans to hold the next conference in two to four years.
What is the OTSFN?
The OTSFN is for all families of children who have Opitz Trigonocephaly
Syndrome, also known as Opitz-C syndrome (after the initial of the first patient). We now
have contact with 24 families in nine different countries.
Our goal is to offer support and encouragement among families by sharing
successes and ideas about feeding, surgeries, therapies and the other individual concerns
we have for our special children. We will put you on our e-mail list and let you know
whenever there is any new information.
What is Opitz Trigonocephaly Syndrome?
Opitz Trigonocephaly or Opitz-C Syndrome is a rare genetic disorder
that was first described in 1969 by Dr. John Opitz.
Opitz-C Syndrom is caused by gonadal
mosaicism. It is known that Opitz-C Syndrome is a gene defect. Chromosomes
are made up of genes. Genes are made of DNA. It is not known what chromosome
the gene defect is on. Research is being done now to find the Opitz-C gene.
The most characteristic feature of Opitz-C is trigonocephaly. This means the
head of an affected individual is triangular shaped. Other clinical regarding the
cranium include metopic synostosis, forehead narrow and pointed and biparietal widening.
In 70% of the patients trigonocephaly, upslanting palpebral fissures, strabismus,
epicanthus, hypoplastic nasal root, low set and posteriorly angulated ears, loose skin,
and joint contractures and dislocations are common. Other features include wide alveolar
ridges, a deeply furrowed palate, and unusual frenulae. Genital abnormalities, congenital heart defects,
hydronephrosis, polysyndactyly and hemangiomas can occur. Neurological findings include
hypotonia, poor sucking reflex, mental retardation and seizures. Some abnormalities may
change with age. Head size, for example, is normal at birth, but there is a tendency to
develop microcephaly. The mortality rate during the first year of life is high. The care
of these problems often requires the combined efforts of geneticists and many specialists.
Surgery is often necessary to repair the anomalies. Special education and a variety of
therapies help with hypotonia, fine and gross motor skills, speech delays and feeding
problems.
Other information about Opitz-C Syndrome can be found in the OMIM database. There are two
other trigonocephaly syndromes, Frydman and Say-Meyer.
Parent's Tip
We find having a medical dictionary to be a helpful resource. Click here for an online medical dictionary.
Glossary
- Alveolar - the socket within the jawbone in
which the roots of the tooth are set
Anomaly - variation from the normal
Cryptorchidism - failure of one or both testes to descend into the scrotum
Epicanthus - fold of skin extending from the upper eyelid to or over the inner
corner of the eye
Frenulae - fold of skin that attaches the lip to the gums
Hemangioma - abnormally dense collections of dilated small blood vessels
(capillaries) that may occur in the skin or internal organs.
Hydronephrosis - dilation of the branches and pelvic cavity of the kidney
Hypoplastic - the incomplete development or underdevelopment of an organ or
tissue.
Hypotonia - having less than the normal muscle tone
Mental Retardation - According to the new definition by the American Association on Mental Retardation (AAMR), an individual is considered
to have mental retardation based on the following three criteria: intellectual functioning level (IQ) is below 70-75;
significant limitations exist in two or more adaptive skill areas; and the condition is present from childhood (defined as age
18 or less) (AAMR, 1992). For
more information on mental retardation, visit the Arc Homepage at www.thearc.org.
Metopic Synostosis - the metopic suture (found in the forhead) is one of several "joints" between the bony plates that form the skull. Synostosis refers to the premature fusion of theses bony plates.
Microcephaly - abnormal smallness of the head or brain case
Polysyndactyly - extra fingers and/or toes (polydactyly) and webbing and/or fusion
of the fingers and/or toes (syndactyly)
Strabismus - a deviation of one or both eyes so that both cannot be directed at
the same object at the same time.
Disclaimer
This page is not created by a medical professional and does not
represent a professional description of Opitz Trigonocephaly or Opitz-C Syndrome.
Any errors should be reported immediately to otsfn@oocities.com
Please come back and visit us soon.
Links to other sites on the Web
Opitz Family Network
SLO/RSH Advocacy and Exchange
The FG syndrome Family Alliance
OMIM entry
for Opitz Trigonocephaly Syndrome
The Sibling Support Project
Family Village
Internet Resources for Special Children
The National Information Center for Children with Dissabilities
Special Education Resources on the Internet
Parents Helping Parents
Abiding Hearts
A Heartbreaking Choice
Genetic Information and Patient Services, A non-profit charity providing free information to the public on genetic disorders and birth defects
Contact us at otsfn@oocities.com
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