Printer Friendly VersionEmail A FriendAdd ThisIncrease Text SizeDecrease Text Size

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 happens when genetic information on chromosome 5 is missing. One missing piece, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.

Most cases are believed to occur during the development of the egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby.

This syndrome may account for up to 1% of individuals with severe mental retardation.

Symptoms
Signs and tests

In addition to symptoms, the physical examination may show:

Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.

Support Groups

5p- Society -- www.fivepminus.org

Expectations (prognosis)

What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

Calling your health care provider

This is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss your baby's signs and symptoms with you. When you leave the hospital, it's important to maintain regular contact with your health care provider and other caregivers. Genetic counseling and testing is recommended for all persons with a family history of this syndrome.

Complications

Complications depend on the extent of mental retardation and physical abnormalities. Complications may include:

  • Inability to care for self
  • Inability to function in society
Treatments

No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.

Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5.

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.


Review Date: 8/26/2009
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.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
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. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2009 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
MAIMONIDES
MEDICAL CENTER


Home Page
Why Choose Us
Donations
Website Terms of Use
PATIENT
INFORMATION


Visitor & Patient Info
Patient Portal
We Speak Your Language
Patient Privacy
Contact Us
KEY
INFORMATION


Find a Physician
Medical Services
Maimonides In the News
Directions & Parking
FOR HEALTH
PROFESSIONALS


Medical Education
Career Opportunities
Nurses & Physicians
Staff Intranet Access
Maimonides Medical Center    |    4802 Tenth Avenue    |    Brooklyn, NY 11219    |    718.283.6000    |