Cri-du-chat syndrome

Cri-du-chat syndrome is a genetic disorder that is caused by a deletion (missing piece) of chromosome number 5. In French, Cri-du-chat means "cats-cry", and this condition is characterized by infants having a very distinct sound to their cry, reminiscent of the cry of a cat. Additionally, individuals with Cri-du-chat syndrome typically have slower than normal development (developmental delay), and severe learning difficulties. Children with Cri-du-chat syndrome are usually small at birth, have a smaller than normal head size (microcephaly) and may have specific facial features (known as dysmorphic features), such as a small chin (micrognathia) and a wide upper nose. Babies with Cri-du-chat syndrome can sometimes be born with problems in their heart, kidneys, and brain. Infants with Cri-du-chat syndrome may require breathing treatment shortly after birth for respiratory problems. Individuals with Cri-du-chat syndrome may also have muscle weakness (hypotonia). This muscle weakness may also affect the ability of a baby with Cri-du-chat syndrome to eat properly (trouble with nursing or bottlefeeding).

Children with Cri-du-chat syndrome should receive specialized care starting from the time of recognition of symptoms or diagnosis of the syndrome. This should include early interventional therapies such as speech, occupational and physical therapy, which will help children with Cri-du-chat syndrome reach their fullest developmental potential.

Children with Cri-du-chat syndrome are expected to remain small compared to their peers, including a small head size (microcephaly). Individuals with Cri-du-chat syndrome may also have a long, narrow face, abnormal dentition (abnormal bite), crossed eyes (strabismus), short stature, and early graying of the hair. As individuals with Cri-du-chat syndrome age, they may develop tightness/stiffness to their muscles, known as hypertonia.

There are a variety of less common symptoms that have only been seen in a few individuals with Cri-du-chat syndrome, including seizures and elastic skin.

As many as 10% of babies born with Cri-du-chat syndrome die in the first year of life.

Individuals and families with questions about a known or suspected diagnosis of Cri-du-chat syndrome may benefit from an evaluation by a medical geneticist and genetic counseling. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.