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$Unique_ID{BRK03615}
$Pretitle{}
$Title{Cohen Syndrome}
$Subject{Cohen Syndrome Pepper Syndrome Prader-Willi Syndrome Marfan Syndrome
Sotos Syndrome Hypothyroidism Retinitis Pigmentosa}
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
751:
Cohen Syndrome
** IMPORTANT **
It is possible that the main title of the article (Cohen Syndrome) is not
the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Pepper Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Prader-Willi Syndrome
Marfan Syndrome
Sotos Syndrome
Hypothyroidism
Retinitis Pigmentosa
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.
Cohen Syndrome is a rare genetic disorder characterized by multiple
facial, mouth and eye abnormalities, muscle weakness, obesity and mental
retardation.
Symptoms
Children with Cohen Syndrome usually have a low birthweight, delayed growth,
and obesity of the trunk that occurs during mid-childhood. Other
characteristics of this disorder may include muscle weakness, (an unusually
small head (microcephaly), high nasal bridge, short philtrum (the vertical
groove in the middle of the upper lip), an open mouth, prominent lips and
upper central incisors, and large ears. The jaw may develop abnormally, and
there may be a mild downslant of the eyelids. Diminished vision in bright
light (hemeralopia), decreased clarity of vision, a narrowing of the visual
field, and degeneration of the retina (retinitis pigmentosa) may also occur.
Other characteristics of Cohen Syndrome may be narrow hands and feet with
long fingers and toes, a single crease (Simian) on the palms of the hands,
unusual increased extension (hyperextensible) of the joints, deformities of
the knees, elbows, and spine, and mild scoliosis (curvature of the spine).
Delayed puberty, undescended testicles in males (cryptorchidism) and mild to
moderate mental retardation are also symptomatic of this rare disorder.
Occasionally people with Cohen Syndrome may have abnormally small eyes,
missing eye tissue, mild webbing of the fingers (syndactyly), seizures, a
reduced number of white blood cells (leukopenia), tall stature, and mitral
valve prolapse in the heart.
Causes
Cohen Syndrome is inherited as an autosomal recessive 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
recessive disorders, the condition does not appear unless a person inherits
the same defective gene for the same trait from each parent. If a person
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.
Affected Population
Cohen Syndrome is a rare genetic disorder that affects males and females in
equal numbers. It occurs more frequently in people of Eastern European
Jewish descent.
Related Disorders
Symptoms of the following disorders can be similar to those of Cohen
Syndrome. Comparisons may be useful for a differential diagnosis:
Prader-Willi Syndrome is a complex, multi-system disorder present more
often in males born following a long gestation period. Females can also be
affected. The primary features of the disease include infantile muscle
weakness, failure to thrive, hypogonadism, and developmental delay. Severe
obesity, which can be life threatening, develops after the first year of
life. Short stature and abnormal intellectual and behavioral functioning is
characteristic of this disorder. (For more information on this disorder,
choose "Prader-Willi" as your search term in the Rare Disease Database).
Hypothyroidism may be a genetic or acquired condition that occurs alone
or as a symptom of another illness. Major symptoms may include the
development of an enlarged thyroid gland (goiter) in the neck, a dull facial
expression, puffiness and swelling around the eyes, drooping eyelids and
thinning hair which is coarse and dry. Intelligence may or may not be
affected. Untreated childhood hypothyroidism is characterized by slowed
growth, delay in the development of teeth, and mental retardation. (For more
information on this disorder, choose "Hypothyroidism" as your search term in
the Rare Disease Database).
Sotos Syndrome is a rare hereditary disorder characterized by excessive
growth during the first 4 to 5 years of life. Other symptoms are an unusual
aggressiveness or irritability, clumsiness and an awkward gait. People with
this disorder have abnormal patterns on the ridges of the skin on fingers,
palms, toes and soles. Bone age tends to be 2 to 4 years advanced, and
patients have a disproportionately large and long head with a slightly
protrusive forehead, large hands and feet. Mild mental retardation also
occurs. (For more information on this disorder, choose "Sotos" as your
search term in the Rare Disease Database).
Marfan Syndrome is an inherited disorder of the connective tissues that
affects the bones and ligaments (skeletal system), muscles, lungs, the eyes,
blood vessels and heart. People with this disorder are unusually tall and
can move their joints beyond the normal range. (For more information on this
disorder, choose "Marfan" as your search term in the Rare Disease Database.)
Retinitis Pigmentosa (RP) is one of a group of inherited eye diseases
causing degeneration of the retina. When the retina degenerates, the vision
decreases and may occasionally be lost. Retinitis Pigmentosa may be
associated with other symptoms such as deafness, central nervous system
disorders, metabolic disorders and even chromosomal abnormalities. Some
people with Cohen's Syndrome may also have Retinitis Pigmentosa. (For more
information on this disorder, choose "Retinitis Pigmentosa" as your search
term in the Rare Disease Database.)
Therapies: Standard
Treatment of Cohen Syndrome may include surgery to correct the facial
deformities, visual problems, webbed fingers, and undescended testicles.
Genetic counseling may be of benefit for patients and their families. Other
treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through July
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 Cohen's 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 (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For genetic information and genetic counseling referrals:
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
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 871.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L.
Jones, M.D.; W.B. Saunders Co., 1988. Pp. 174.
COHEN URETERAL REIMPLANTATION: SONOGRAPHIC APPEARANCE. P. Mezzacappa, et
al.; RADIOLOGY (December 1987, issue 165 (3)). Pp. 851-852.
COHEN SYNDROME: A CONNECTIVE TISSUE DISORDER? K. Mehes, et al.; AM MED
GENET (September 1988, issue 31 (1)). Pp. 131-133.
INTRAFAMILIAL VARIATION IN COHEN SYNDROME. I. Young, et al.; J MED
GENET, (August 1987, issue 24 (8)). Pp. 488-492.
COHEN SYNDROME WITH BULL'S EYE MACULAR LESION. K. Resnick, et al.;
OPHTHALMIC PAEDIATR GENET (March 1986, issue 7 (1)). Pp. 1-8.
COHEN SYNDROME IN ISRAEL. J. Sack, et al.; ISR J MED SCI (November 1986,
issue 22 (11)). Pp. 766-770.