Cri-du-Chat Syndrome

Distinctive kitten-like cry in infancy

Cri-du-chat syndrome is a genetic disorder caused by partial deletion (loss) of part of human Chromosome 5 (known as 5p-). This chromosome error occurs during fetal development and is not inherited. The estimated incidence of the syndrome in the United States is 1 in 50,000 live births. Cri-du-chat syndrome affects people of all ethnic backgrounds.

Symptoms
The syndrome gets its name ("cat's cry") from the characteristic cry of infants born with the disorder. The infant sounds just like a mewing kitten, due to problems with the larynx and nervous system. This cry identifies the syndrome. About 1/3 of children lose the cry by age 2. Other symptoms of cri-du-chat syndrome may include:

• Feeding problems because of difficulty swallowing and sucking
• Low birth weight and poor growth
• Severe cognitive, speech, and motor delays
• Behavior problems such as hyperactivity, aggression, tantrums, and repetitive movements
• Unusual facial features which may change over time

Diagnosis is based on the distinctive cry and accompanying physical problems. Genetic testing (FISH) can confirm the diagnosis.

Treatment
No treatment exists for the underlying genetic disorder, so medical care is focused on the symptoms. Chronic medical problems, such as respiratory tract infections, may occur and require treatment. Heart defects may need to be corrected by surgery. The child with cri-du-chat syndrome may require a gastrostomy tube for feeding.

To increase communication skills, early intervention by a speech therapist can help the child learn to use sign language. Behavior modification programs can help families manage the child's behavior problems, often a source of stress for the family.

Information for this article was taken from:
Chen, H. (2002). Cri-du-chat syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic504.htm