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- $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.
-
-