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Cri Du Chat
By: Allyson Custer
Cri Du Chat is also known as:
Chromosome 5p Deletion Syndrome
5p Minus Syndrome
Cat Cry syndromeLe Jeune Syndrome
CRI DU CHAT IS A GENETIC DISORDER CAUSED BY DELETION
OF A SECTION OF CHROMOSOME 5
Dr. Jerome Lejeune– Founder of Cri Du Chat Disease1963
Cri Du Chat is usually random and not by heredity through the parents
The deleted chromosome 5 is paternal in about 80% of cases
Symptoms Downward slanted eyesAbnormally shaped earsPartial webbing or fusing of fingers/toesSingle line in the palm of the handSmall head/jawWide-set eyesSeparated abdominal muscles Low muscle toneEpicanthal folds—extra fold of skin over inner corner of the eye
Love
SymptomsFeeding problems because of difficulty swallowingLow birth weight and poor growthSevere speech & motor delaysBehavioral problems such as hyperactivity, aggression, tantrumsUnusual facial features which may change over timeExcessive dribblingConstipation
Dreams
Sunny Smiles
Most cases are believed to occur during the development of egg or spermThe disease may account for up to 1% of individual’s with severe mental retardationIt’s rareMost result from one parent carrying a rearrangement of chromosome 5 called a translocation
The condition affects an estimated 1 in 20,000 to 50,000 live birthsFound in people of all ethnic backgroundsMore common in females
Risk Factors
They are to get early speech therapyMay need a tube for feedingSymptoms can be treated but the disease is not treatable or curableSkull x-ray may reveal an abnormal angle to the base of the skullParents usually get counseling
Treatments
Helping Hands
March of DimesThe Arc—National Organization on Mental RetardationChromosome Disorder Outreach Inc.5p-Society
Department of Human GeneticsCri Du Chat Syndrome Support GroupMUMS—Mothers United for Moral Support IncLet Them Hear Foundation
Thanks for Watching!!!
http://www.peacehealth.org/kbase/nord/nord19.htmhttp://rarediseases.about.com/cs/criduc
hatsynd/a/010704.htmhttp://en.wikipedia.org/wiki/Cri_du_chathttp://www.criduchat.asn.au/criduchat/hedda.htm
Works Cited