Locations Main Campus: Chesterfield, MO 63017   |   Locations
314-434-1500 314-434-1500   |   Contact Us

Multimedia Encyclopedia


 
E-mail Form
Email Results

 
 
Print-Friendly
Bookmarks
bookmarks-menu

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 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

 

Symptoms include:

  • Cry that is high-pitched and may sound 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 health care provider will perform a physical exam. This may show:

  • Inguinal hernia
  • Diastasis recti (separation 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 provider 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 most often diagnosed at birth. Your provider will discuss your baby's symptoms with you. It is important to continue regular visits with the child's providers after leaving the hospital.

Genetic counseling and testing is recommended for all people 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, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 81.

 

        A Closer Look

         

          Talking to your MD

           

            Self Care

             

              Tests for Cri du chat syndrome

               

                 

                Review Date: 8/1/2015

                Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, 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 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.
                adam.com

                 
                 
                 

                 

                 

                A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.



                Content is best viewed in IE9 or above, Firefox and Google Chrome browser.