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What is Cri du Chat Syndrome?
Cri du Chat Syndrome, also known as 5p- (5p minus) Syndrome, is a chromosomal syndrome caused by a small deletion of genetic material on the short arm of the fifth chromosome. The deletion includes a variety of the genes, which can cause a number of physical features and intellectual disabilities.
Symptoms of Cri du Chat Syndrome
Individuals affected by Cri du Chat Syndrome typically have some of the following symptoms:
- Low birth weight or failure to gain weight at a normal rate
- Feeding problems due to weak suck and poor swallowing
- Delayed development in gross motor, fine motor, and speech skills
- Growth retardation
- Distinct facial features, including wide-set eyes, a small head, and and a weak chin
Causes of Cri du Chat Syndrome
Cri du Chat Syndrome is caused by a missing piece of the fifth chromosome. This missing piece occurs as a random event during either the formation of egg or sperm cells or in early embryonic cell division. The size, location, and contents of the missing genetic material is not identical in every individual and is what causes the wide variety of signs and symptoms.
Treatments for Cri du Chat Syndrome
Treatment for Cri du Chat Syndrome is highly individualized based on the needs of the individual. The main goal is to maximize the person’s mental and physical ability. This may involve:
- Early intervention health and education services
- Occupational therapy to improve movement and coordination
- Speech therapy and social skills training
- Psychological counseling to help the individual and family cope
Health Related to Cri du Chat Syndrome
Individuals with Cri du Chat Syndrome are at an increased risk for a variety of health problems. These include:
- Delayed development
- Gastrointestinal problems
- Respiratory problems
- Growth and endocrine disorders
- Cardiac problems
- Hearing and vision impairment
- Seizures
Early intervention, therapies, and treatments can help reduce the risk of some of these health problems. However, due to the wide spectrum of effects caused by Cri du Chat Syndrome, regular medical care is recommended to ensure optimal health for individuals with this disorder.