There are about 1 in 15,000 to 50,000 live births with Cri du Chat syndrome, a rare genetic disorder caused by a missing chromosome 5. It causes various mental and physical disabilities. Because affected infants have distinctive high-pitched cries that are similar to cat meows, the name comes from the French word for "cry of the cat".
In Cri du chat syndrome, genetic material on the short arm (p arm) of chromosome 5 is deleted. The size and location of the deletion vary, which determines the severity and type of symptoms. In most cases, deletion is not inherited and occurs by chance. It can occur randomly during egg or sperm cell formation, or it can be inherited from a parent who has a rearrangement of chromosome 5.
The most common symptom of cri du chat syndrome is a high-pitched, cat-like cry that is present at birth or in the first few weeks of life. The cry becomes less noticeable as the child grows older. Other symptoms may include:
Low birth weight and poor growth
Feeding difficulties, such as difficulty swallowing and sucking
Weak muscle tone and delayed motor skills
Developmental delays and intellectual disability
Speech and language problems
Behavioral problems, such as hyperactivity, aggression, and self-injury
Distinctive facial features, such as a small head, round face, wide nose, widely spaced eyes, low-set ears, and small jaw
Heart defects and other organ abnormalities
Skeletal problems, such as scoliosis, short fingers, and flat feet
A physical examination and genetic test can help diagnose Cri du Chat syndrome. Physical examinations can reveal characteristic facial features and cat-like sounds. Genetic tests can confirm a deletion on chromosome 5. It is also possible to detect the deletion in fetuses prenatally, using amniocentesis or chorionic villus sampling methods.
There is no cure for cri du chat syndrome, but treatment can help improve the quality of life of affected individuals and their families. Treatment may include:
Special education and speech therapy to help with learning and communication
Physical and occupational therapy to help with motor skills and daily activities
Medications to treat seizures, reflux, and behavioral problems
Surgery to correct heart defects and other organ problems
Counseling and support groups to provide emotional and social support
As cri du chat syndrome is a genetic disorder, there is no way to prevent it. However, genetic counseling can help parents who have a child with it or a family history of it. The possibility of having another child with the syndrome, the possible outcomes of the syndrome, and the options for prenatal testing and family planning can be discussed during genetic counseling.
