$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.