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$Unique_ID{BRK03582}
$Pretitle{}
$Title{Cerebro-Costo-Mandibular Syndrome}
$Subject{Cerebro-Costo-Mandibular Syndrome Cerebrocostomandibular Syndrome CCM
Syndrome CCMS Micrognathia Pierre Robin Syndrome (Robin Syndrome) Rib Gap
Defects with Micrognathia}
$Volume{}
$Log{}
Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.
508:
Cerebro-Costo-Mandibular Syndrome
** IMPORTANT **
It is possible the main title of the article (Cerebro-Costo-Mandibular
Syndrome) is not the name you expected. Please check the SYNONYMS listing on
the next page to find alternate names and disorder subdivisions covered by
this article.
Synonyms
Cerebrocostomandibular Syndrome
CCM Syndrome
CCMS
Rib Gap Defects with Micrognathia
Information on the following conditions may be found in the Related
Disorders section of this report:
Micrognathia
Pierre Robin Syndrome (Robin 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.
Cerebro-Costo-Mandibular Syndrome is a rare genetic disorder
characterized by an unusually small jaw (micrognathia), abnormalities of the
palate and multiple rib defects. Sometimes mild to moderate mental
retardation may occur as a result of respiratory distress during infancy.
Symptoms
Cerebro-Costo-Mandibular Syndrome is characterized by an abnormally small jaw
(micrognathia), downward displacement or retraction of the tongue
(glossoptosis), abnormalities of the palate usually manifested as a cleft
soft palate, and multiple rib defects particularly in the 4th and 5th pairs.
Sometimes mild to moderate mental deficiency may occur which can be caused by
respiratory distress during infancy. Numerous associated features involving
the bones, kidneys, heart, windpipe (trachea), and hearing have also been
reported in the medical literature.
Increased susceptibility to respiratory infections may be life
threatening in some cases. Establishing adequate nipple feeding is often
difficult and may lead to failure to thrive. Rare cases of hearing loss due
to a defect of the middle ear with delayed speech development can be
associated with this disorder. Recurrent pneumonia and middle ear infection
(otitis media) often occur. Rib fractures and rib gap defects
(pseudoarthosis) usually tend to improve with age.
Causes
Cerebrocostomandibular Syndrome is a genetic disorder transmitted through
autosomal recessive inheritance. Manifestations of the disorder may not be
present in all who inherit the disease (variable penetrance). Respiratory
distress immediately after birth should be guarded against. (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 recessive disorders, the condition does not appear unless a
person inherits the same defective gene 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 show no 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.) Variable penetrance means that characteristics or
symptoms of a particular disorder may not be manifested in all those who
inherit the defective genes.)
Affected Population
Cerebro-Costo-Mandibular Syndrome is a very rare disorder present at birth.
Persons of European descent are primarily affected. Males and females tend
to be affected in equal numbers.
Related Disorders:
The following conditions may be similar to symptoms of Cerebro-Costo-
Mandibular Syndrome. Comparisons may be useful for a differential diagnosis:
Micrognathia is characterized by an unusually small jaw.
Pierre Robin Syndrome (Pierre Robin Anomaly; Robin Syndrome; Cleft
Palate, Micrognathia and Glossoptosis; Micrognathia and Glossoptosis
Syndrome). This syndrome is part of Cerebro-Costo-Mandibular Syndrome. This
syndrome is characterized by an abnormally small jaw (micrognathia), downward
displacement of the tongue, and a cleft palate. It is a genetic disorder
probably inherited through autosomal recessive genes. (For more information
on this disorder, choose "Pierre Robin" as your search term in the Rare
Disease Database.)
Therapies: Standard
Intensive medical care for respiratory distress, feeding difficulty and
respiratory infections is necessary for infants with Cerebro-Costo-Mandibular
Syndrome. The palate can be surgically repaired. Genetic counseling is
recommended for families of children with this disorder.
Therapies: Investigational
This disease entry is based upon medical information available through
October 1989. 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 Cerebro-Costo-Mandibular 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
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
(800) 535-3643
Craniofacial Family Association
170 Elizabeth Street, Suite 650
Toronto, Ontario, M5G, 1X8 Canada
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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
This report in the Rare Disease Database is based on outlines prepared by
medical and dental students (1984-1986) at the Medical College of Virginia
for their course in human genetics.
CEREBROCOSTOMANDIBULAR SYNDROME. CASE REPORT AND LITERATURE REVIEW:
K.G. Smith, et al.; Clin Pediatr (Phila) (April 1985: issue 24(4)). Pp.
223-225.
THE COURSE OF THE CEREBROCOSTOMANDIBULAR SYNDROME: D.J. Harris, et al.;
Birth Defects (1977: issue 13(3C)). Pp. 117-130.
MENDELIAN INHERITANCE IN MAN, 7TH ED.: VICTOR A. McKUSICK; Johns
Hopkins University Press, 1986. P. 135.