The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of chromosome segregation||90%|
|Abnormality of the voice||90%|
|Low-set, posteriorly rotated ears||90%|
|Wide nasal bridge||90%|
|Abnormality of the palate||50%|
|Intrauterine growth retardation||50%|
|Abnormality of bone mineral density||7.5%|
|Hernia of the abdominal wall||7.5%|
|Preauricular skin tag||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the kidney||-|
|Abnormality of the pinna||-|
|Anterior open-bite malocclusion||-|
|Conspicuously happy disposition||-|
|Delayed speech and language development||-|
|Downturned corners of mouth||-|
|Feeding difficulties in infancy||-|
|Functional respiratory abnormality||-|
|High axial triradius||-|
|Oppositional defiant disorder||-|
|Premature graying of hair||-|
|Prominent supraorbital ridges||-|
|Recurrent infections in infancy and early childhood||-|
|Short attention span||-|
|Single transverse palmar crease||-|
|Small for gestational age||-|
|Stenosis of the external auditory canal||-|
|Thick lower lip vermilion||-|
Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.
The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
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.
Nguyen JM et al., 5p deletions: Current knowledge and future directions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38.
Boultwood J et al., Advances in the 5q- syndrome. Blood. 2010 Dec 23;116(26):5803-11.
Pituch KA et al., Educational Priorities for Children with Cri-Du-Chat Syndrome. J Dev Phys Disabil. 2010 Feb;22(1):65-81.
Rodríguez-Caballero A et al., Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8.
Cornish K, Bramble D. Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Dev Med Child Neurol. 2002 Jul;44(7):494-7.
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What is the life expectancy for someone with cri du chat syndrome? See answer
I am a school nurse and have a first grader with Cri du chat syndrome. Are skeletal anomalies common among people with this chromosomal defect? See answer
How does cri du chat syndrome occur? How does genetic counseling work? See answer
Is yelling and aggression a common behavioral characteristic of cri du chat syndrome? See answer
What are the new or experimental treatments options for cri du chat syndome? See answer