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$Unique_ID{BRK03636}
$Pretitle{}
$Title{Crouzon Disease}
$Subject{Crouzon Disease Craniofacial Dysostosis Craniostenosis Crouzon
Craniofacial Dysostosis Acrocephalosyndactyly II Apert-Crouzon Disease
Oxycephaly-Acrocephaly Virchow's Oxycephaly Vogt's Cephalosyndactyly Apert
Syndrome Saethre-Chotzen Syndrome Carpenter Syndrome Craniosynostosis}
$Volume{}
$Log{}
Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders,
Inc.
419:
Crouzon Disease
** IMPORTANT **
It is possible the main title of the article (Crouzon Disease) is not the
name you expected. Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and relate disorders covered by
this article.
Synonyms
Craniofacial Dysostosis
Craniostenosis
Crouzon Craniofacial Dysostosis
Acrocephalosyndactyly II
Apert-Crouzon Disease
Oxycephaly-Acrocephaly
Virchow's Oxycephaly
Vogt's Cephalosyndactyly
Information on the following diseases can be found in the Related
Disorders section of this report:
Apert Syndrome
Saethre-Chotzen Syndrome
Carpenter Syndrome
Craniosynostosis
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.
Crouzon Disease is a genetic disorder characterized by abnormalities in
the skull, face, and brain caused by premature hardening of the skull. The
skull is made up of several bony plates initially joined by fibrous
connective tissue which normally fuse together and harden over a period of
several years after growth of the brain. Facial deformities are often
present at birth and may progress with time. Vision disturbances and
deafness can develop in some cases. With treatment, pressure inside the
skull may be relieved and major symptoms may improve.
Symptoms
In Crouzon Disease ocular symptoms may include an unusually wide distance
between the eyes, a condition in which the eyes do not look in the same
direction (strabismus), and protrusion of the eyeballs. Swelling of the
optic disk inside the eye and optic atrophy may develop. Impaired vision
and/or hearing loss may be present in some cases. The nose may be beak-
shaped and can have a defect in the dividing cartilage (deviated septum).
The upper jaw may be underdeveloped, the upper lip shortened, and the lower
lip and tongue tend to protrude. The head may be pointed, the forehead
widened, and in some cases the roof of the mouth (palate) may be high, arched
or shortened. Dental malformations may also occur. Without early treatment,
increased pressure in the skull may cause headaches, vomiting and/or
convulsions. Facial features may continue to change with time. In severe
cases, mental impairment may develop as a consequence of increased pressure
on the brain and cranial nerves.
Causes
Crouzon Disease is inherited as an autosomal dominant trait. Symptoms are
caused by premature fusion or closure of the fibrous or "soft" parts of the
skull. When this happens, the brain and face may not be able to grow
normally. (Human traits including the classic genetic diseases, are the
product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the
disease. The risk of transmitting the disorder from affected parent to
offspring is 50% for each pregnancy regardless of the sex of the resulting
child.)
Affected Population
Crouzon Disease affects males and females in equal numbers. Onset occurs
before birth. It is a very rare craniofacial disorder.
Related Disorders
Symptoms of the following disorders can be similar to Crouzon Disease.
Comparisons may be useful for a differential diagnosis:
Apert Syndrome, also known as Acrocephalosyndactyly Type I, is
characterized by fused or webbed fingers and toes (syndactyly), a pointed
head, other skeletal and facial abnormalities, and mental retardation. It is
inherited as an autosomal dominant trait. Symptoms are present at birth.
(For more information on Apert Syndrome, choose "Apert" as your search term
in the Rare Disease Database).
Saethre-Chotzen Syndrome, also known as Acrocephalosyndactyly Type III,
is a hereditary disorder involving various craniofacial and skeletal
malformations with abnormalities of the skin on the toes and fingers. Short
stature, and in some cases mild to moderate mental retardation may also
occur. Facial characteristics may improve with time. (For more
information on Saethre-Chotzen Syndrome, choose "Saethre-Chotzen" as your
search term in the Rare Disease Database).
Carpenter Syndrome, also known as Acrocephalopolysyndactyly, is
characterized by skeletal and skin abnormalities present at birth. Major
symptoms may include a pointed head, abnormal shortness of fingers with
webbing between them, and the presence of more than five toes on each foot.
This disorder may sometimes be associated with mental retardation.
Craniosynostosis is a bone growth abnormality caused by premature fusion
or closure of the fibrous or "soft" parts of the skull. When this happens,
the brain and face may not be able to grow normally. Craniosynostosis can be
associated with a variety of genetic syndromes such as Crouzon Disease, or it
can occur sporadically.
Therapies: Standard
Treatment of Crouzon Disease involves surgery to relieve pressure inside the
skull. This can be done by separating the bony sections and lining the seams
between them with polyethylene or other materials to prevent fusion. Various
other craniofacial reconstructive procedures may benefit patients allowing
them to lead a normal life. Medication, corrective eye glasses, or eye
surgery may help to correct various vision disturbances. Genetic counseling
may be of benefit for patients and their families. Other treatment is
symptomatic and supportive.
Therapies: Investigational
Researchers at Johns Hopkins Hospital are trying to determine the genes
responsible for craniofacial disorders. Physicians may contact Drs. Amy
Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital,
Baltimore, MD, 21205, (301) 955-0484.
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 Crouzon disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
Meniere Crouzon Syndrome Support Network
2375 Valentine Dr., #9
Prescott, AZ 86303
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
1-800-535-3643
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Society For the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
(212) 340-5400
About Face
99 Crowns Lane
Toronto, Ontario M6R 3PA
Canada
(416) 944-3223
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
For genetic information and genetic counseling referrals, please contact:
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
DEVELOPMENTAL ABNORMALITIES: A.B. Baker and Robert J. Joynt; In: Clinical
Neurology. Harper & Row, Publishers. 1986, Revised Edition. Pp. 71-74.
PREMATURE CLOSURE OF THE CRANIAL SUTURES: Lewis P. Roland and Charles
Kennedy; In: Merritt's Textbook of Neurology. Lea & Febiger. 1984, 7th
Edition. Pp. 376-379.
THREE-DIMENSIONAL CAT SCAN RECONSTRUCTION--PEDIATRIC PATIENTS: K.E.
Salyer, et al.; Clin Plast Surg (July 1986, issue 13(3)). 463-474.