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Cri du chat syndrome


Definition:

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.

Alternative Names:

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

Causes:

Cri du chat syndrome is rare. It is caused by a missing piece of 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 to their child.

Symptoms:

Exams and Tests:

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

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 themselves.

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:

Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme JW III, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 76.


Review Date: 9/8/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest 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, Bethanne Black, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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