Cri Du Chat Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cri Du Chat Syndrome?
A pediatrician (a children's doctor) usually leads care, with a medical geneticist (a doctor who treats inherited conditions). Speech and physical therapists also help. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Cri-du-chat syndrome?
Cri-du-chat syndrome is a chromosomal condition in which a piece of chromosome 5 is missing. The name means "cat's cry" in French. It comes from the high-pitched cry that many infants have.
It is also called 5p- syndrome or 5p deletion syndrome. It is rare, but it is one of the more common chromosome conditions. It happens in an estimated 1 in 20,000 to 50,000 newborns, in people of all ethnic backgrounds.
Symptoms
Signs and how serious they are differ from person to person. Common features include:
- A high-pitched, cat-like cry in infancy, which usually fades within the first few months.
- Intellectual disability and delayed development.
- A small head, low birth weight, and weak muscle tone in infancy.
- Feeding trouble, including a weak suck and trouble swallowing.
- Distinctive facial features, such as widely set eyes, low-set ears, a small jaw, and a rounded face.
- A heart defect in some children.
Behavior can include hyperactivity. It can also include self-injury. Comprehension of speech is often better than the ability to talk.
Causes and who gets it
The cause is a missing piece at the end of the short arm of chromosome 5. Bigger missing pieces tend to cause more severe delay than small ones.
Most cases are not inherited. The change usually happens by chance when egg or sperm cells form, or very early in pregnancy. About 10 percent of people inherit the change from a parent. That parent carries a balanced translocation, a rearrangement of chromosomes in which no genetic material is gained or lost.
How doctors diagnose it
Signs like a small head, low birth weight, weak muscle tone, and a cat-like cry raise suspicion. A karyotype, a test that looks at chromosomes, is an early test to confirm it.
If the karyotype is normal but suspicion stays high, other tests can help. One is FISH, a test that uses glowing markers to find missing DNA. Chromosomal microarray, a test that finds tiny missing DNA pieces, is also widely used.
It can sometimes be found before birth, through amniocentesis, a test of the fluid around the baby.
Treatment
There is no treatment that cures the syndrome. Care is supportive and tailored to each person. Early help is strongly recommended. Care often includes:
- Physical, occupational, and speech therapy for movement, daily tasks, and communication.
- Other ways to communicate, such as gestures, sign language, or picture aids, when needed.
- Hearing tests for all children, since hearing loss can occur.
- Surgery for some heart defects or other fixable problems.
- Learning support and help with behavior, such as hyperactivity or sleep problems.
Genetic counseling is also recommended.
When to see a doctor
Talk to a doctor if your baby has a cat-like cry or feeding trouble. Feeding trouble can lead to poor weight gain and dehydration. Infections of the breathing tract can also be a problem in infancy.
Call 911 or go to the emergency room if a child has trouble breathing, a seizure, or fainting.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can help coordinate hearing checks, therapy referrals, and visits with specialists such as a geneticist. They can also provide follow-up as your child grows.
Common questions
Is Cri-du-chat syndrome inherited?
Usually not. Most cases are not inherited. About 10 percent of people inherit the change from a parent who carries a balanced translocation.
Does the cat-like cry go away?
Usually yes. The high-pitched cry usually disappears within the first few months of life.
Can Cri-du-chat syndrome be prevented?
No, not in most cases. Most cases cannot be prevented. Genetic counseling can explain the chance of it happening again and the choices for future pregnancies.
Can people with Cri-du-chat syndrome live into adulthood?
Yes, many do. Many people survive into adulthood with supportive care. Deaths are most common in early childhood, often linked to severe heart defects or serious breathing problems.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
