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Disease Profile

Cri du chat syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

Q93.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cat cry syndrome; 5p minus syndrome; Chromosome 5p deletion syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Cri du chat syndrome is present from birth and 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 based on the clinical examination, symptoms and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3]

Symptoms

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-like 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 may 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]

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.

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

Diagnosis

Cri du chat syndrome is diagnosed based on a clinical examination, the signs and symptoms, and confirmed by the results of genetic testing. Cri du chat syndrome is sometimes diagnosed during pregnancy through prenatal testing.[1][3][5]

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

    Treatment for cri du chat syndrome is focused on the managing the symptoms.

    Specialists who might be involved in the care of someone with cri du chat syndrome include:[1][3]

    Organizations

    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

      Learn more

      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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Cri du chat syndrome. This website is maintained by the National Library of Medicine.
      • 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.

          References

          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).

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