What is Cri du Chat Syndrome?

Cri du Chat Syndrome, otherwise known as five p minus (5p-) or cat cry syndrome, is a genetic chromosomal condition caused by the absence of a piece of the fifth chromosome. The relatively rare syndrome has an occurrence rate of 1 in 20,000 or 1 in 50,000 according to the US National Library of Medicine. While there is no specific population that is predisposed to the condition, there is a 10-15% chance that a parent is a carrier of the disease, meaning that a translocation occurred in the parent’s fifth chromosome. A translocation occurs when two similar sized parts of different chromosomes are swapped. The translocation of the parent’s chromosome results in a deletion of part of the short arm of the child’s fifth chromosome. The amount of the deletion is related to the severity of the symptoms, with larger deletions leading to more severe symptoms.

What are the signs and symptoms?

There are a variety of symptoms related to Cri du Chat Syndrome, including but not limited to the following:

How is it diagnosed?

Diagnosis for Cri du Chat Syndrome is usually completed within the first few days of birth based on the symptoms, physical examination and genetic testing. Additionally, diagnosis can occur when the baby is still in the womb through genetic testing via an amniocentesis of the Chorionic Villus Sampling (CVS) test.

What are the treatment options?

Since all the cells from the missing chromosome piece are absent, there are no specific treatment options for Cri du Chat Syndrome. The best treatment options involve ongoing therapies from the parents, therapists, clinicians and educators.

If someone you know suffers from Cri du Chat Syndrome and is need of medical equipment, be sure to check out the services from Cincinnati, Ohio’s home care company, RSVP Home Care. The respiratory therapists and medical equipment can assist you with many different medical treatments to help patients suffering from Cri du Chat Syndrome. Do not hesitate to contact us today!