$Unique_ID{BRK03633} $Pretitle{} $Title{Cri du Chat Syndrome} $Subject{Cri du Chat Syndrome 5p-Syndrome Partial Deletion of the Short Arm of Chromosome Number 5 Syndrome Cat's Cry Syndrome Chromosome 5p-Syndrome Le Jeune Syndrome} $Volume{} $Log{} Copyright (C) 1984, 1985, 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 19: Cri du Chat Syndrome ** IMPORTANT ** It is possible that the main title of the article (Cri du Chat Syndrome) was not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms 5p-Syndrome Partial Deletion of the Short Arm of Chromosome Number 5 Syndrome Cat's Cry Syndrome Chromosome 5p-Syndrome Le Jeune 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. Cri du Chat Syndrome is characterized in infants by a very distinctive high, shrill, mewing, kitten-like cry that fades in later infancy. Other symptoms are also present including distinct facial features. Symptoms The characteristic cry of Cri Du Chat syndrome is present during the first weeks of life. Birth weight is usually low, and growth is slow. Almost all infants with Cri Du Chat Syndrome have an abnormally small head (microcephalic) and mental retardation. An infant with this disorder generally has a round face with unusually wide-set eyes (hypertelorism), and excess skin over the inner corners of the eyes (epicanthal folds). Other symptoms of Cri du Chat syndrome may include eyes that are either crossed or looking away (strabismus), low-set and/or malformed ears, a small chin, a prominent nose, and facial features that are not balanced side to side (asymmetry). A single crease across the palms of the hands (Simian creases) is common. Over three-quarters of these infants have signs of weakness and poor muscle tone (hypotonia). As the infants grow older this is generally replaced with an exaggeration of muscular reflexes (hyperreflexia). A few patients with Cri Du Chat Syndrome are nearsightedness (myopia). Some infants with Cri Du Chat Syndrome may have a split in the front of the upper lip (cleft lip), an abnormal opening in the roof of the mouth (cleft palate), or an abnormal opening or fissure in the back of the mouth (bifid uvula). In some patients, one side of the spinal column may be incompletely developed (hemivertebra). Other infants may have a tear in the supportive tissue of the lower abdomen (inguinal hernia). In male infants with Cri Du Chat syndrome the testes may fail to descend into the scrotum (cryptochidism). Other infrequent symptoms include the absence of a kidney and/or the spleen, a clubfoot, and flat feet. Seven of 13 adults in one study had a curvature of the spinal column (scoliosis) and 11 patients had short bones in the hands (metacarpals) and feet (metatarsals). Causes Cri Du Chat Syndrome is caused by a partial deletion of the short arm of chromosome 5. The more pronounced the deletion is, the more severe the effect on intelligence, height and weight. Affected Population Cri du Chat Syndrome was first described in 1963; since then over 100 cases have been reported. It has been estimated that the syndrome occurs in about 1:50,000 births and accounts for approximately 1 percent of institutionalized mentally retarded patients. Therapies: Standard Treatment for Cri du Chat Syndrome is symptomatic and supportive. Physical therapy, special education and related services may be of benefit to children. Surgery may be performed to correct an eye that is either crossed or looking away (strabismus) and this may offer some cosmetic improvement. An orthopedist should be consulted for curvature of the spine (scoliosis) and deformities of the feet. A series of surgeries may correct a cleft lip and palate. Speech therapy may be necessary in some cases. Early preventive dental treatment in an aggressive manner is very important; the dentist must be informed that the patient has Cri du Chat Syndrome. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research and studies of Cri du Chat Syndrome are ongoing. One study has shown that early special schooling, a home environment (rather than an institutional one), and family support may help the patient achieve the abilities of a normal five or six year old. In the same study half the children over ten who had undergone special schooling and lived in a supportive home environment, were able to communicate adequately. Scientific techniques in determining chromosomal abnormalities are becoming more and more refined. This means diagnostic techniques have improved and in certain instances prenatal diagnosis of Cri du Chat Syndrome is possible. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through September 1992. 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 Cri du Chat Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Cri du Chat Society Department of Human Genetics Medical College of Virginia Box 33 MCV Station Richmond, VA 23298 (804) 786-9632 5p-Society 11609 Oakmont Overland Park, KS 66210 (913) 469-8900 Chromosome Deletion Outreach P.O. Box 164 Holtsville, NY 11742 (516) 736-6754 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 SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W. B. Saunders Co., 1988. Pp. 40-41. NELSON TEXTBOOK OF PEDIATRICS, 14TH Ed.; Richard E. Behrman, Editors; W.B. Saunders Company, 1991. Pp. 287-288. CONFIRMATION OF A BALANCED CHROMOSOMAL TRANSLOCATION USING MOLECULAR TECHNIQUES. R. D. Smart, et al.; Prenat Diagn (Jul 1989; issue 9 (7)). Pp. 505-513. CRI DU CHAT SYNDROME: DENTAL CONSIDERATIONS AND REPORT OF CASE, R A. Boraz; Spec Care Dentist (Jan-Feb 1990; issue 10 (1)): Pp. 13-15. 5p;12q TRANSLOCATION WITH MANIFESTATIONS OF CRI DU CHAT SYNDROME AND MARFANOID ARACHNODACTYLY, S.Z. Zhang, et al.; Clin Genet (Feb 1990; issue 37 (2)): Pp. 153-157. MOLECULAR ANALYSIS OF A CASE OF MEIOTIC RECOMBINATION LEADING TO CRI DU CHAT SYNDROME, M. Dobbs, et al.; Cytogenet Cell Genet (1988; issue 47 (1- 2)): Pp. 5-7.