Cri Du Chat Syndrome Alaina Stein

About Cri Du Chat Syndrome is a rare genetic disorder due to a missing part of chromosome 5. It is also known as chromosome 5p deletion syndrome, 5p minus syndrome, and Lejeune’s syndrome.

Cont. - Strikes all ethnicities, and is more common in females. - The condition is rare, and affects 1 in 50,000 births. - Cru Du Chat Syndrome is not fatal, but there is no cure. - Most individuals with this disorder have a normal lifespan , unless diagnosed otherwise.

Symptoms Symptoms include low birth weight, poor growth, severe speech and motor delays, unusual facial features, webbing of fingers and toes, feeding problems, behavioral problems, constipation, and drooling. You can recognize someone with this disorder with their facial features. The disorder gets it’s name from the “meowing kitten” cry that is caused by problems with the larynx , and nervous system.

Diagnosis/Treatment Genetic testing is available. Diagnosis is based on the physical problems that are experienced, and the distinctive cry. Diagnosis can be made at birth. Treatment includes speech, sound, and occupational therapy. Then symptoms can affect everyday life of the person. Intellectual disability is experienced.

Support Groups There are support groups for this syndrome such as The 5P- Society. It’s a non-profit corporation, and family support group for children with Cri du Chat Syndrome. It is meant to spread awareness, and educate families and their service providers.

Interesting Facts The chromosome break occurs while the sperm or egg cell is developing. The parent does not have the break in any of their cells, and is unlikely for this event to happen with a second child. In 80 % of the cases, the chromosome carrying the deletion comes from the father's sperm, and not the mothers egg. Cri du Chat is a French term for “cry of the cat”

Resources http://www.fivepminus.org/ http://en.wikipedia.org/wiki/Cri_du_chat Family friend that has a child with Cri du Chat Syndrome.