National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cri du chat syndrome


Other Names:
Cat cry syndrome; 5p minus syndrome; Chromosome 5p deletion syndrome; Cat cry syndrome; 5p minus syndrome; Chromosome 5p deletion syndrome; 5p- syndrome; Monosomy 5p; 5p deletion syndrome; Chromosome 5p- syndrome See More
Categories:
Cri du chat syndrome is a genetic condition present from birth that affects growth and development. Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance. They may have trouble breathing and feeding difficulties. People with this condition typically have intellectual disability, developmental and speech delay, and behavioral issues. Cri du chat syndrome is due to a missing piece (deletion) of a specific part of chromosome 5 known as the 'p' arm. In general, the severity of the symptoms is determined by the size and location of the deletion on chromosome 5.  This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families. Diagnosis is made based on the clinical examination, symptoms and genetic testing. Treatment is based on the symptoms.[1][2][3]
Last updated: 4/27/2020
The following list includes the most common signs and symptoms in people with cri du chat syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition. 

Signs and symptoms may include:[2][3]
  • Cat cry
  • Small head size (microcephaly)
  • Characteristic facial features
  • Hypotonia
  • Intellectual disability
  • Global developmental delay
  • Behavior issues
  • Growth delay
Babies with cri du chat syndrome often have low birth weight and occasionally have trouble feeding and breathing. Some have heart defects that require surgery. As children and adults, people with this condition may have significant intellectual, development and speech delay. They may have trouble gaining weight and tend to be shorter than average.[1][4]
Last updated: 4/27/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 80 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cat cry
cat-like cry
0200046
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
High pitched voice 0001620
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Low-set, posteriorly rotated ears 0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microretrognathia
Small retruded chin
0000308
Muscular hypotonia
Low or weak muscle tone
0001252
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Severe global developmental delay 0011344
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Scoliosis 0002650
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Small hand
Disproportionately small hands
0200055
5%-29% of people have these symptoms
Abnormality of bone mineral density 0004348
Abnormality of cardiovascular system morphology 0030680
Finger syndactyly 0006101
Inguinal hernia 0000023
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Preauricular skin tag 0000384
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Percent of people who have these symptoms is not available through HPO
Abnormality of the kidney
Abnormal kidney
0000077
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Anterior open-bite malocclusion
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting
[ more ] 		0009102
Anxiety
Excessive, persistent worry and fear
0000739
Autism 0000717
Bifid uvula 0000193
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Conspicuously happy disposition 0100024
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Difficulty walking
Difficulty in walking
0002355
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ] 		0002714
Echolalia
Echoing another person's speech
0010529
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Facial grimacing 0000273
Feeding difficulties in infancy 0008872
Functional respiratory abnormality 0002795
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
High axial triradius 0001042
Hyperactivity
More active than typical
0000752
Hyperacusis 0010780
Hypertonia 0001276
Hypospadias 0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Metatarsus adductus
Front half of foot turns inward
0001840
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Oppositional defiant disorder 0010865
Optic atrophy 0000648
Overfriendliness 0100025
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] 		0002216
Prominent supraorbital ridges
Prominent brow
0000336
Recurrent infections in infancy and early childhood 0005437
Self-mutilation
Deliberate self-harm
Self mutilation
[ more ] 		0000742
Short attention span
Poor attention span
Problem paying attention
[ more ] 		0000736
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743
Short philtrum 0000322
Single transverse palmar crease 0000954
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Sporadic
No previous family history
0003745
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ] 		0000733
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Syndactyly
Webbed fingers or toes
0001159
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] 		0000179
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Last updated: 7/1/2020
Cri du chat syndrome is caused by a missing piece (deletion) of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size and location of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe symptoms than smaller deletions.[3][5]
Last updated: 4/7/2014
Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event (de novo) during the formation of egg or sperm cells or in early development of an embryo.[3][5]

About 10-15 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems, but they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation will have extra or missing genetic material. Individuals with cri du chat syndrome inherit an unbalanced translocation with genetic material missing from the short arm of chromosome 5.[3][5]
Last updated: 4/27/2020
Cri du chat syndrome is diagnosed based on a clinical examination, the signs and symptoms, and confirmed by genetic testing. Cri du chat syndrome is sometimes diagnosed during pregnancy through prenatal testing.[1][3][5]
Last updated: 4/27/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for cri du chat syndrome is based on the managing the signs and symptoms.

Specialists who might be involved in the care of someone with cri du chat syndrome include:[1][3]
Last updated: 4/27/2020
It has been estimated that about 1 in 15,000 to 1 in 50,000 babies are born with cri du chat syndrome worldwide.[2][3][5] The exact number of people that have this condition is unknown. 
Last updated: 4/27/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Mowat-Wilson and Wolf-Hirschhorn syndromes, 1p36 monosomy, 17q21 microdeletion, and other chromosomal anomalies.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cri du chat syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Cri du chat syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cri du chat syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Liverani ME, Spano A, Danesino C, Malacarne M, Cavani S, Spunton M, Guala A. Children and adults affected by Cri du Chat syndrome: Care's recommendations.. Pediatr Rep. 2019. 2019; 11(1):7839. https://pubmed.ncbi.nlm.nih.gov/30838120.
  2. Espirito Santo LD, Moreira LM, Riegel M. Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients. Biomed Res Int. Mar 2016; 2016:5467083. https://pubmed.ncbi.nlm.nih.gov/27144168.
  3. Ajitkumar A, Jamil RT, Mathai JK. Cri Du Chat Syndrome. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/29494067.
  4. Honjo RS, Mello CB, Pimenta LSE, Nunes-Vaca EC, Benedetto LM et al. Cri du Chat syndrome: Characteristics of 73 Brazilian patients. J Intellect Disabil Res. June 2018; 62(6):467-473. https://pubmed.ncbi.nlm.nih.gov/29460462.
  5. Cri Du Chat Syndrome. National Organization for Rare Disorders (NORD). Last updated: 2017; https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/.