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1994-01-17
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$Unique_ID{BRK03614}
$Pretitle{}
$Title{Coffin-Siris Syndrome}
$Subject{Coffin-Siris Syndrome Mental Retardation with Hypoplastic 5th
Fingernails and Toenails Dwarfism-Onychodysplasia}
$Volume{}
$Log{}
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
177:
Coffin-Siris Syndrome
** IMPORTANT **
It is possible the main title of the article (Coffin-Siris 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
Mental Retardation with Hypoplastic 5th Fingernails and Toenails
Dwarfism-Onychodysplasia
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.
Coffin-Siris Syndrome, a disorder of unknown cause, is present from birth
and affects both sexes equally. It is chiefly characterized by feeding
problems, frequent respiratory infections, and growth deficiencies.
Symptoms
Feeding problems, vomiting, and recurrent respiratory infections are the
first manifestations of Coffin-Siris Syndrome. Mental deficiency and mild to
severe hypertonia (excessive tension or activity) also occurs. Clinical
signs include short stature and a coarse looking face with bushy eyebrows,
low nasal bridge, wide nose and/or mouth and thick lips. The 5th fingernails
and toenails may be incompletely developed (hypoplastic) or absent. Scalp
hair is possibly sparse. There may also be hypertrichosis (excessive hair
growth ) and joints may be lax (dislocated elbows are common). Retardation
in linear height as well as in dental, motor, and mental development may also
occur.
Occasionally, patients develop variable skin, skeletal, genital, cardiac
defects and Dandy-Walker Syndrome.
Causes
The precise cause of Coffin-Siris Syndrome is unknown at this time. The
disorder appears sporadically. It may possibly be inherited as an autosomal
recessive trait. (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.)
Related Disorders
Patients with Coffin-Siris Syndrome may also have Dandy-Walker Syndrome.
Therapies: Standard
Treatment of Coffin-Siris Syndrome is symptomatic and supportive.
Therapies: Investigational
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 Coffin-Siris Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Short Stature Foundation
17200 Jamboree Rd., Suite J
Irvine, CA 92714-5828
(714) 474-4554
800-24 DWARF
The Magic Foundation
1327 N. Harlem Ave.
Oak Park, IL 60302
(708) 383-0808
Human Growth Foundation (HGF)
7777 Leesburg Pike
P.O. Box 3090
Falls Church, VA 22043
(703) 883-1773
(800) 451-6434
References
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988. Pp. 522-3.
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 258-9.