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Cri-du-chat (Cat Cry Syndrome). Angie Lam Jenn Mann Maura Markowitz Jennie Zaborsky. Quick Facts. Hereditary Congenital Syndrome Deletion of short arm of chromosome 5 No Known Cure One of Most Common Human Deletion Syndromes 1 in 20,000 to 1 in 50,000 births
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Cri-du-chat(Cat Cry Syndrome) Angie Lam Jenn Mann Maura Markowitz Jennie Zaborsky
Quick Facts • Hereditary Congenital Syndrome • Deletion of short arm of chromosome 5 • No Known Cure • One of Most Common Human Deletion Syndromes • 1 in 20,000 to 1 in 50,000 births • Less than 1% are profoundly retarded • Also known as LeJune’s Disease
Physical Features • Babies • High Pitched cry at birth • Low Birth Weight • Poor Muscle Tone • Developmental Delay • Small Head • Round “Moon” Face http://members.tripod.com/~yenial/confpics98.html
Physical Features • Children • Small Thin Build • Short Stature • Small Chin, Long Nose • Delay in Mobility, Speech, Toilet Training • Protruding Teeth • Some Internal Abnormalities such as Heart Defects or Absent Kidneys http://www.cridchat.u-net.com/
Treatment • No Current Cure • Intervention from Speech Therapists, Physiotherapists and Occupational Therapists • Some Drugs control behavioral or sleep problems