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    Cri du chat syndrome

    Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome

    Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.

    Causes

    Cri du chat syndrome is rare. It is caused by a problem with chromosome 5.

    Most cases are believed to occur during the development of the egg or sperm. A small number of cases occur when a parent passes a different, rearranged form of the chromosome onto their child.

    Symptoms

    • Cry that is high-pitched and sounds like a cat
    • Downward slant to the eyes
    • Low birth weight and slow growth
    • Low-set or abnormally shaped ears
    • Intellectual disability
    • Partial webbing or fusing of fingers or toes
    • Single line in the palm of the hand
    • Skin tags just in front of the ear
    • Slow or incomplete development of motor skills
    • Small head (microcephaly)
    • Small jaw (micrognathia)
    • Wide-set eyes

    Exams and Tests

    The doctor will perform a physical exam. This may show:

    • Inguinal hernia
    • Diastasis recti (separatation of the muscles in the belly area)
    • Low muscle tone
    • Epicanthal folds, an extra fold of skin over the inner corner of the eye
    • Problems with the folding of the outer ears

    Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal any problems with the shape of the base of the skull.

    Treatment

    There is no specific treatment. Your doctor will suggest ways to treat or manage the symptoms.

    Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5.

    Support Groups

    5P- Society -- www.fivepminus.org

    Outlook (Prognosis)

    Intellectual disability is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less noticeable over time.

    Possible Complications

    Complications depend on the amount of intellectual disability and physical problems. Symptoms may affect the person's ability to care for themself.

    When to Contact a Medical Professional

    This syndrome is usually diagnosed at birth. Your health care provider will discuss your baby's symptoms with you. It is important to continue regular visits with the child's health care providers after leaving the hospital.

    Genetic counseling and testing is recommended for all persons with a family history of this syndrome.

    Prevention

    There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.

    References

    Descartes M, Carroll AJ. Cytogenetics. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 81.

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              Tests for Cri du chat syndrome

                Review Date: 8/4/2011

                Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

                The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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