Health Encyclopedia

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, incidence, and risk factors

Cri du chat syndrome is rare. It occurs when a piece of information on chromosome 5 is missing. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, 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 occur during the development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation.

Between 1 in 20,000 - 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation.

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
Mental retardation
Partial webbing or fusing of fingers or toes
Single line in the palm of the hand (simian crease)
Skin tags just in front of the ear
Slow or incomplete development of motor skills
Small head (microcephaly)
Small jaw (micrognathia)
Wide-set eyes

Signs and tests

In addition to symptoms, the physical examination may show:

Inguinal hernia
Diastasis recti (separated abdominal muscles)
Low muscle tone
Epicanthal folds, an extra fold of skin over the inner corner of the eye
Incompletely or abnormally folded external ears

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

Treatment

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.

Support Groups

5p- Society -- www.fivepminus.org

Expectations (prognosis)

The outcome varies but mental retardation is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

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

Calling your health care provider

This is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss the findings with you. On discharge, 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.

Prevention

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

Review Date:7/1/2007
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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