Cri Du Chat Syndrome

A rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the P arm) of chromosome 5.

Cri Du Chat SyndromeChromosome 5p deletion syndrome5p minus syndromeCats cry syndrome

Genetic DeletionsHuman Telomerase Reverse Transcriptase (HTERT) helps to keep the information in DNA functioning properly.If HTERT is damaged, mental illnesses such as cri-du-chat occur.Catenin (Cadherin-Associated Protein) Delta 2 (CTNND2 Gene)an important gene that is lost when a portion of the 5 pair chromosome is deleted.May cause severe intellectual disability

Signs and SymptomsHigh pitched cat-like cryMicrocephalyLow set earsHypertelorismLow Birth WeightHypotoniaSimean CreaseLanguage difficultiesFeeding difficultiesDelay in walkingHyperactivityScoliosisMental retardation

High pitched cry less apparent in timeMicrocephaly small head sizeHypertelorism widely spaced eyesHypotonia weak muscle tone3

Diagnosis & TreatmentSymptom-focused treatment & Supportive careMost common symptoms: Cat-like cry, mircocephaly, hypotonia, and mental retardationGenetic counselingAmniocentesisChorionic Villi SamplingPhysical therapy is recommended to strengthen the muscles.To increase communication skills, a speech therapist can help the child learn to use sign language.

Support Group: http://www.fivepminus.org/ MISSION STATEMENTTo encourage and facilitate communication among families having a child with 5p- Syndrome and to spread awareness and education of the syndrome to these families and their service providers.

References WEBSITES: http://medical-dictionary.thefreedictionary.com/cri+du+chat+syndrome http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome http://www.genome.gov/19517558

BOOKS:Encyclopedia BritannicaWebsters Encyclopedia