Cri du chat syndromeDefinition:
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.
Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome
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.
Exams and Tests:
The doctor will perform a physical exam. This may show:
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.
There is no specific treatment. Your doctor 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.
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.
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 usually diagnosed at birth. Your health care provider will discuss your baby's symptoms with you. It is important to continue regular visits with the child's health care providers after leaving the hospital.
Genetic counseling and testing is recommended for all persons with a family history of this syndrome.
There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme JW III, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 76.