Cri-du-Chat Syndrome - Human Anatomy and Physiology | BIOL 322, Study notes of Physiology

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Cri-du-chat Syndrome

By Heather Taylor

Definition of Cri-du-chat

 A partial deletion of the short arm of chromosome 5p, resulting in severe growth abnormalities and mental retardation (Wikipedia) Name is French for cry of the cat , which refers to the distinctive cat-like crying of the infant when first born (Wikipedia)

History of Cri du chat  Originated in 1963  Dr. Lejeune and associates discovered a disease resulting from the loss of a region of chromosome 5p  Symptoms result from a loss of region in band 5p15.  Cat’s cry results from a loss of region in band 5p15.3 (eMedicine)

History of Cri du chat (cont.)  Crying of infant a result in laryngeal abnormalities—including floppy epiglottis, small larynx or asymmetric vocal chords  Area of brain connecting cranial base with laryngeal region can also be deformed (eMedicine)

Symptoms (cont.)  (^) Female Normal puberty Menstruate on time Can have bicornuate uterus  (^) Male Smaller testes Sperm appear normal

Symptom: Wide-set eyes http://www.cridchat.u-net.com

About the Disease  Extremely rare, only affects 1 in 20,

• 50,000 infants  Accounts for 1% of mental retardation in children  Missing piece of information on chromosome 5p (eMedicine)

Children with cri du chat www.wikipedia.org

Treatment  No known treatment for cri du chat  Mental retardation must be addressed  Parents need to take karyotype test to determine if there is a rearrangement of chromosome 5 (Medline Plus)

Treatment (cont.)  Treatment is for the symptoms, not the disease itself  Surgery for heart defects  Tube used for feeding  Early treatment by speech therapist may be needed  Treatment for respiratory tract infections (RareDiseases)

Mortality Rates  Extremely low—only 6-8% of children die from this disease  The chances of a child with cri du chat progressing to adulthood are very good

Severity of Disease?  Some children only mildly affected— can walk and talk like normal children  Other children are severely disabled and mental retarded—unable to walk or talk  These children have a shorter lifespan  Most children with cri du chat fall under one of these two categories (Better Health)

Conclusion  Children with cri du chat can lead normal lives  With proper care and love, these children can progress into adulthood