|
|
Cri du Chat Syndrome
Alternate Names : 5p Minus Syndrome, Cat Cry Syndrome, Chromosome 5p Deletion Syndrome
DefinitionCri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome's name is based on the infant's cry, which is high pitched and sounds like a cat.
Overview, Causes, & Risk Factors
The cri du chat syndrome is caused by the deletion of information on chromosome 5. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of cri cu chat develop.
The cause of this rare chromosomal deletion is not known, but it is expected that the majority of cases are due to spontaneous loss of a piece of chromosome 5 during development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation.
Between 1 in 20,000 and 1 in 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. Infants with cri du chat syndrome commonly have a distinctive cat-like cry. They also have an extensive grouping of abnormalities with severe mental retardation being the most important.
Today's Top News Stories | • | FDA Backs Cholesterol Drug Vytorin - Jan 08, 2009, 17:00
Review says it lowered bad cholesterol more effectively than Zocor. | • | Common Flu Strain Resistant to Popular Antiviral Drug - Jan 08, 2009, 19:00
But other medications are available that work, CDC officials stress. | • | Many Turn Blind Eye to Racism - Jan 08, 2009, 17:00
They're not quick to condemn hurtful comments, study suggests. | • | Studies Challenge Framingham Risk Score - Jan 08, 2009, 19:00
The long-standing assessment for heart risk may not be accurate in some cases. | • | Clinical Trials Update: Jan. 8, 2009 - Jan 08, 2009, 10:12
- Rheumatoid Arthritis
- Neurologic Disorders
- Seizure Disorders
|
|
Jump to another section
• Definition
• Cri du Chat Syndrome Overview, Causes, & Risk Factors
• Cri du Chat Syndrome Symptoms & Signs
• Cri du Chat Syndrome Prevention
• Cri du Chat Syndrome Diagnosis & Tests
• Cri du Chat Syndrome Treatment
• Cri du Chat Syndrome Prognosis
• Cri du Chat Syndrome Complications
• Cri du Chat Syndrome Support Groups
• Calling Your Health Care Provider
Topics that might be of interest to you Diseases & Conditions
• Diastasis Recti
• Hernia
• Intrauterine Growth Restriction
• Mental Retardation
Other Topics
• Chromosome
• Epicanthal Folds
• Microcephaly
• Micrognathia
• Physical Examination
• Pinna Abnormalities and Low-Set Ears
• Simian Crease
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
|
|
