CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0363/03631.txt

Text File | 1994-01-17 | 10.1 KB | 245 lines

$Unique_ID{BRK03631}
$Pretitle{}
$Title{Craniosynostosis, Primary}
$Subject{Craniosynostosis Primary Craniostenosis CSO Kleeblattschadel
Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly
Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly
Turricephaly}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

932:
Craniosynostosis, Primary

** IMPORTANT **
It is possible that the main title of the article (Primary
Craniosynostosis) is not the name you expected.  Please check the SYNONYMS
listing to find the alternate name and disorder subdivisions covered by this
article.

Synonyms

     Craniostenosis
     CSO
     Kleeblattschadel Deformity
     Plagiocephaly
     Scaphocephaly
     Trigonocephaly
     Turricephaly

Disorder Subdivisions:

     Kleeblattschadel Deformity
     Plagiocephaly
     Scaphocephaly
     Trigonocephaly
     Turricephaly

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.

Primary Craniosynostosis is a rare disorder of the skull that may be
inherited as an autosomal dominant or autosomal recessive genetic trait.
Premature closure of the bones (sutures) in the skull result in an abnormally
shaped head.  The severity of symptoms and shape of the skull depend on which
skull bones are prematurely closed.  This disorder is present at birth.

Symptoms

Primary Craniosynostosis is a rare disorder characterized by premature
closure of the bones of the skull.  The shape of the head may be altered
while the size is normal.  The shape of the skull depends on which type of
premature closure the patient is born with.

Kleeblattschadel Deformity is a type of craniosynostosis in which there
is premature closure of multiple or all bones of the skull (sutures).  This
condition causes the head to form a cloverleaf shape.  The head may be larger
than normal due to accumulation of fluid (hydrocephaly) in the skull.

Plagiocephaly is a form of craniosynostosis in which the coronal joint of
the skull closes on one side.  This causes the head to look twisted or
lopsided.  The forehead and orbit of the eye are flat on one side.  Bulging
of the forehead may be apparent.  This form of the disorder is more common in
females.

Scaphocephaly is a form of craniosynostosis in which the sagittal joint
is closed prematurely.  This is the line where the two bones that form the
side of the skull meet.  Premature closure of this suture causes a long
narrow head.  Scaphicephaly is the most common form of craniosynostosis.

Trigonocephaly is a form of craniosynostosis in which there is premature
closure of the bones of the forehead (metopic suture).  This condition causes
a keel-shaped forehead and eyes that are set close together (hypotelorism).
Patients with this form of craniosynostosis are at risk for abnormal
development of the forebrain.

Turricephaly is characterized by premature closure of both the coronal
and sagittal joints of the skull.  This causes an upward growth of the head
giving it a long narrow appearance with a pointed top.

Causes

Primary Craniosynostosis is a rare disorder that may be inherited as an
autosomal recessive or autosomal dominant genetic 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 dominant disorders a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the other normal
gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

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

Primary Craniosynostosis is a rare disorder that generally affects males
slightly more often than females.  There have been a few hundred cases of
this disorder reported in the medical literature.  The genetically recessive
cases of this disorder in the United States have been associated with people
of Amish ancestry in Ohio.

Related Disorders

The following disorders may be associated with Craniosynostosis as secondary
characteristics.  They are not necessary for a differential diagnosis:

Apert Syndrome is a rare disorder inherited as an autosomal dominant
genetic trait.  This disorder is characterized by fused or webbed fingers and
toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal
and facial abnormalities, and mental retardation.  (For more information on
this disorder, choose "Apert Syndrome" as your search term in the Rare
Disease Database).

Carpenter Syndrome is a rare disorder inherited as an autosomal recessive
genetic trait.  This disorder is characterize by an unusual shape of the head
(oxycephaly) as well as deformities of the hands (brachysyndactyly) and feet
(preaxial polydactyly).  (For more information on this disorder, choose
"Carpenter Syndrome" as your search term in the Rare Disease Database).

Crouzon Disease is a rare disorder inherited as an autosomal dominant
genetic trait.  Symptoms of this disorder may be:  abnormalities of the skull,
face and brain due to premature closure of the bones of the skull; swelling
of the optic disk inside the eye; impaired vision; hearing loss; a beak-
shaped nose, an underdeveloped lower jaw; and/or a high arched palate.  (For
more information on this disorder, choose "Crouzon Disease" as your search
term in the Rare Disease Database).

Pfeiffer Syndrome is a rare disorder inherited as an autosomal dominant
genetic trait.  This disorder is characterized by a short, pointed head
(acrobrachycephaly) and abnormalities of the face, jaws and teeth.  Webbed
fingers or toes (syndactyly) and other abnormalities of the thumbs and big
toes may also occur.  Symptoms can vary from mild to severe.  (For more
information on this disorder, choose "Pfeiffer Syndrome" as your search term
in the Rare Disease Database).

Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an
autosomal dominant genetic trait.  This disorder is characterized by a small
head (microcephaly), premature closure of the bones of the skull
(crainiosynostosis), mildly fused webbed fingers and/or toes (syndactyly),
and facial abnormalities.  (For more information on this disorder choose
"Saethre-Chotzen Syndrome" as your search term in the Rare Disease Database.

Therapies:  Standard

When multiple premature closures of the skull are present, surgery may be
performed to prevent pressure and possible brain damage.

Surgery may also be performed for cosmetic reasons.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

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
October 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 Primary Craniosynostosis, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203)-746-6518

     National Association for the Craniofacially Handicapped
     P.O. Box 11082
     Chattanooga, TN  37401
     [phone]

     National Craniofacial Foundation
     3100 Carlisle Street, Suite 215
     Dallas, TX  75204
     [phone]

     About Face
     99 Crowns Lane
     Toronto, Ontario M5R 3PA
     Canada
     [phone]

     NIH/National Institute of Child Health and Human Development (NICHHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 278-9, 1303-3.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 464.

NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman, M.D.,
Editor:  W.B. Saunders Company, 1992.  Pp. 1490-91.

A POPULATION-BASED STUDY OF CRANIOSYNOSTOSIS:  L.R. French, et al.; J
Clin Epidemiol (1990, issue 43(1)).  Pp. 69-73.

CRANIOSYNOSTOSIS:  AN ANALYSIS OF THE TIMING, TREATMENT, AND COMPLICATIONS
IN 164 CONSECUTIVE PATIENTS:  L.A. Whitaker, et al.; Plast Reconstr Surg
(August, 1987, issue 80(2)).  Pp. 195-212.