Cri Du Chat Syndrome

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