CRI DU CHAT

DEFINITION

• Known as chromosome 5p deletion syndrome
• Happens when you have a missing part of chromosome 5
• If you have this you may have physical deformities some may include
• Small head skin folds over eyes digits fused or webbed together
• This effects MANY parts of the body

SYMPTOMS

• Feeding problems
• Low birth weight
• Severe speech delays
• Behavioral problems
• Unusual facial features

SYMPTOMS CONTINUED

• Excessive drooling
• Constipation
• Small head and jaw
• Wide eyes
• Skin tags in front of eyes

CAUSE OF THE DISORDER

• Part of Chromosome 5 deletes itself
• Yes it's a chromosomal mutation

IS THE DISORDER IS INHERITED

• Yes it's sex linked its mostly in females
• It's located on chromosome 5
• It's recessive

TREATMENTS FOR THE DISORDER

• No medications that we know of
• Possibility in the future of gene therapy

DIAGNOSIS

• Doctors can tell if you have this if you sound like a cat
• Yes genetic counseling is available

TYPES OF PEOPLE WHO HAVE THE DISORDER

• Mostly found in females
• Happens in 1 in 20,000 babies

NEW INFORMATION LEARNED

• Not to get this disease
• Deletion of the fifth chromosome