Cri du Chat Syndrome

What is cri du chat syndrome?

Cri du chat syndrome, or cat cry syndrome, is a rare genetic disorder that happens because of a missing piece (deletion) of a chromosome. It gets its name from the distinct cry that infants with the disease make — it sounds like the high-pitched mewing of a cat. “Cri du chat” means “cry of the cat” in French.

5p- (pronounced “5p minus”) syndrome is another name for the condition. 5p- describes the genetic deletion on the small arm (the p arm) of chromosome 5. 5p- syndrome is a spectrum disorder. The size and location of the deletion can vary, so symptoms can range from mild to severe. If your child has a larger deletion, they may have more serious symptoms.

How common is cri du chat syndrome?

Cri du chat syndrome is a rare disorder, but it’s one of the most commonly seen chromosomal anomalies. The disease occurs in 1 in 15,000 to 1 in 50,000 live births in the U.S. In other words, about 50 to 60 babies are born with cat cry syndrome every year.

What are the symptoms of cri du chat syndrome?

Symptoms of cri du chat syndrome can vary widely. The most common symptom of the disorder is a distinct high-pitched, shrill cry. It sounds like a cat cry and may be present during the first few weeks of your baby’s life. The cry becomes less noticeable as your baby grows older.

Your baby may also have distinct facial features that include:

• Unusually small head (microcephaly).
• Abnormally round face.
• Wide nose.
• Widely set eyes (hypertelorism).
• Crossed eyes (strabismus).
• Downward slanting eyelid folds (palpebral fissures).
• Extra fold of skin over the inner corner of your child’s eyes (monolid eyes).
• Low-set ears.
• Abnormally small jaw (micrognathia).
• Unusually short distance from your child’s upper lip to their nose (short philtrum).

As your baby grows, their face may lose its plumpness and become abnormally long and narrow.

Other symptoms of cri du chat may include:

• Low birth weight.
• Delayed growth.
• Feeding difficulties, such as poor sucking, difficulty swallowing (dysphagia) and GERD.
• Weak muscle tone (hypotonia).
• Curvature of the spine (scoliosis).
• Heart defects.
• Developmental delays, such as head control, sitting up and walking.
• Speech and language delays.
• Moderate to severe intellectual disability.

What causes cri du chat syndrome?

Cri du chat syndrome is a chromosomal disorder. A deletion of part of the short arm (the p arm) of chromosome 5 causes the condition. This deletion most often occurs randomly during the formation of reproductive cells (eggs or sperm) in early fetal development. The parents of a child with a random deletion usually have normal chromosomes.

Is cri du chat autosomal dominant or recessive?

Most cases of cri du chat syndrome aren’t inherited, so the condition isn’t dominant or recessive. People with 5p- syndrome typically have no biological family history of the disorder.

About 10% of people with the disorder inherit the chromosome abnormality from an unaffected parent. When this happens, the parent carries a chromosomal rearrangement called a balanced translocation. The parent doesn’t lose or gain any genetic material, and they don’t usually have any medical problems. But balanced translocations can become unbalanced when a parent passes them on to their child.

How is cri du chat syndrome diagnosed?

Your child’s healthcare provider will usually be able to diagnose cri du chat syndrome at birth. They’ll see and hear the usual symptoms — including the cat-like cry — associated with the disease. They’ll perform a complete physical exam and evaluate your child’s symptoms. More than likely, your child’s provider will recommend chromosomal testing to confirm the diagnosis.

What tests will be done to diagnose cri du chat syndrome?

There are three genetic tests your child’s healthcare provider may use to diagnose cri du chat:

• Karyotype: A karyotype chromosomal analysis maps out your child’s chromosomes and lets you know if something is missing or added.
• FISH testing: FISH stands for fluorescence in situ hybridization. FISH testing looks for specific gene changes or parts of genes in your child’s cells.
• Chromosome microarray analysis: Microarray analysis is a type of genetic testing that compares your child’s DNA to a control group. It can identify deletions and duplications of whole chromosomes, parts of chromosomes and specific locations of chromosomes.

Can cri du chat be cured?

There’s no cure for cri du chat. But, with prompt diagnosis and early intervention, your child may be capable of reaching their fullest potential and leading a meaningful life.

How is cri du chat syndrome treated?

Treatment for cri du chat syndrome varies depending on your child’s specific symptoms. Treatment will most likely require ongoing care from a team of healthcare providers. The most common form of treatment is rehabilitation through physical therapy, occupational therapy and speech therapy.

Physical therapy

If your baby has feeding difficulties, they should start physical therapy right away to address problems with sucking and swallowing. Physical therapy can also help your child’s physical development by teaching them to sit, stand and improve their fine motor skills.

Occupational therapy

Occupational therapy may benefit your child by providing interventions that can help them develop skills to interact with the world around them. These may include fine motor, visual, self-care and sensory skills.

Speech therapy

Speech therapy can assist your child with communication issues. Speech therapists teach your child different methods of communicating, such as sign language and technology-assisted communication. Speech therapists also help with feeding issues from an early age.

In addition to supportive therapies, your child’s healthcare provider may recommend surgery to treat a variety of symptoms. Surgery may correct congenital heart defects, strabismus and scoliosis.

How can I prevent cri du chat?

You can’t prevent cri du chat syndrome since it’s a genetic condition. If you plan on becoming pregnant, talk to your healthcare provider about genetic counseling. Genetic counseling can help you understand your risk of having a child with a genetic condition.

What is the life expectancy for cri du chat?

The outlook for most children with cri du chat syndrome is variable. The size and location of the deletion of chromosome 5 is a major factor in your child’s prognosis. Your child will have noteworthy limitations in their physical and mental development. But most children with cri du chat have a normal life expectancy.

Some children, however, are born with life-threatening health issues. Of these children, about 75% will die during their first month of life. About 90% of deaths occur during the first year of life. Rates of death decrease after the first few years of life.

One of the most important factors in the prognosis of your child’s disease is a prompt diagnosis. This allows for early intervention and therapeutic methods that can help your child succeed.

A note from Cleveland Clinic

Finding out your baby has a rare genetic disorder can be difficult, but learning about their condition can give you a sense of control. Cri du chat syndrome is a spectrum disorder with a wide range of symptoms. With a prompt diagnosis and appropriate treatment, you can ensure the best possible outcome for your child. Find out all you can about the disease and look for support groups to help you along the way. With early intervention and consistent treatment, your child can achieve their maximum potential.