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Cri du Chat Syndrome - Coggle Diagram
Cri du Chat Syndrome
Symptoms
high-pitched cat-like cry
delayed development
distinctive facial features
small head (microcephaly)
widely spaced eyes (hypertelorism)
low birth weight
hyopotonia
difficulty with language
feeding difficulties
delays in walking
hyperactivity
scoliosis
Heredity
Not inherited (most cases)
Deletion is a random event
No family history
Unbalanced translocation
10% of these individuals inherit the chromosome from an unaffected parent
What is it?
Also known as: 5p - syndrome and cat cry syndrome
rare genetic condition
deletion of genetic material on the small arm of chromosome 5
Diagnosis
made in hospital at birth
analysis of chromosomes
Sometimes a more detailed genetic test: FISH analysis
Treatment
No specific treatment
Ongoing support from parents, therapists, medical professionals, and educational professionals