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$Unique_ID{BRK04203}
$Pretitle{}
$Title{Saethre-Chotzen Syndrome}
$Subject{Saethre-Chotzen Syndrome Acrocephalosyndactyly Type III Chotzen
Syndrome }
$Volume{}
$Log{}
Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc.
330:
Saethre-Chotzen Syndrome
** IMPORTANT **
It is possible the main title of the article (Saethre-Chotzen Syndrome)
is not the name you expected. Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Acrocephalosyndactyly Type III
Chotzen 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.
Saethre-Chotzen syndrome 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.
Symptoms
Saethre-Chotzen syndrome is characterized by a small head (microcephaly),
skull asymmetry, mildly fused or webbed fingers and/or toes (syndactyly), and
facial abnormalities. These facial abnormalities may include:
1. skull bony fusion (craniosynostosis)
2. low-set frontal hairline
3. a beaked nose without the dividing septum
4. drooping (ptosis) of the eyelids
5. improper eye movement (strabismus)
6. tear duct shrinkage (stenosis)
Shortness of fingers and/or toes (brachydactyly) and abnormal skin
patterns (dermatoglyphics) on the hands and feet may also be present. Facial
manifestations usually improve somewhat with time.
Some respiratory, heart, and/or kidney problems can also develop in
people with this disorder.
Causes
Saethre-Chotzen Syndrome is believed to be inherited as an autosomal dominant
trait, although the specific defective gene has not yet been identified.
(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
Saethre-Chotzen syndrome is present at birth. Both sexes can be affected and
the disorder is found worldwide.
Related Disorders
Apert Syndrome is an autosomal dominant inherited disorder characterized by
fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or
oxycephaly), other skeletal and facial abnormalities, and mental retardation.
This disorder varies from Saethre-Chotzen because it has a narrower range of
physical manifestations. For more information on Apert Syndrome, choose
"Apert" as your search term in the Rare Disease Database.
Therapies: Standard
Treatment for Saethre-Chotzen Syndrome is symptomatic and supportive.
Patients should be monitored carefully for respiratory or heart problems, and
infection should be guarded against. Family members of patients can have
less encompassing milder forms of the disorder, and might benefit from a
medical evaluation. Genetic counseling may be useful to families of
patients.
Therapies: Investigational
Research into causes and treatment of many genetic/birth defects is ongoing.
For more information, please contact the agencies listed in the resources
section of this entry.
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
January 1990. 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 Saethre-Chotzen 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 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 Ave.
New York, NY 10016
(212) 340-5400
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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 more information on genetics and genetic counseling referrals,
please contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Ave.
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
DERMATOGLYPHICS IN SAETHRE-CHOTZEN SYNDROME: A FAMILY STUDY: L. Borbolla,
et. al.; Acta Paediatr Acad Sci Hung (1983 issue 24(3)). Pp. 269-279.
THE SAETHRE-CHOTZEN SYNDROME: O.A. Pantke, et. al.; Birth Defects (1975,
issue 11(2)). Pp. 190-225.