Cri-du-chat syndrome is a chromosomal deletion syndrome in which part of chromosome 5 is missing.
(See also Overview of Chromosome and Gene Disorders.)
Cri-du-chat syndrome is a rare syndrome in which part of chromosome 5 is missing. The size of the missing part varies, and people who have larger deletions are often more severely affected.
Symptoms of Cri-du-Chat Syndrome
Symptoms of cri-du-chat syndrome often include a characteristic high-pitched, mewing cry that sounds like a kitten crying. This cry may be heard immediately after birth, lasts several weeks, and then disappears. However, not all affected newborns have this distinct cry.
An infant with this syndrome may have a low birth weight and a small head with many abnormal features, including a round face, small jaw, wide nose, widely separated eyes, crossed eyes (strabismus), and abnormally shaped ears set low in the head. Often the infant seems limp. Webbed fingers and toes (syndactyly) and heart defects are common.
There are significant limitations in mental and physical development.
Diagnosis of Cri-du-Chat Syndrome
Before birth, ultrasound of the fetus and sometimes chorionic villus sampling or amniocentesis
After birth, the appearance of the infant and chromosomal testing
Before birth, cri-du-chat syndrome may be suspected based on findings detected during an ultrasound of the fetus. Doctors may also do chorionic villus sampling to obtain and test a small sample of the placenta or amniocentesis to obtain and test a sample of the fluid that surrounds the fetus (amniotic fluid).
After birth, doctors may diagnose cri-du-chat syndrome based on the newborn's physical appearance. Doctors can confirm the diagnosis by chromosomal testing. (See also Next-generation sequencing technologies.)
Treatment of Cri-du-Chat Syndrome
Supportive care
Treatment of cri-cu-chat syndrome is supportive and includes various therapies (such as occupational, physical, and speech therapies) that can help manage a person's symptoms and improve quality of life.
Many children with cri-du-chat syndrome survive to adulthood but typically have substantial disabilities.
