French for "cry of the cat"
Who Recognized It?
It was first recognized by geneticist Jerome Lejeune in 1963. Symptoms included with Cri-du-chat are small cat like mewing, slow growth, lack of muscular and mental strength and even a small head.
How Rare and How It's Inherited
Well, Cri-du-chat is a sex-linked trait. It effects babies between 1 in 20,000 and 1 in 50,000. The disorder is located on the short arm of a chromosome 5. Why this happens is because there is partial deletion to it. It's most common in females rather than males.
This is what a girl with Cri-du-chat would look like
Symptoms, Side Effects, and Harm It Does
It's most recognized when their is the "cat cry" like a cat mewing. Although this will go away or suppress over time there are many other effects. Like, there is still growth problems, lack of physical and mental strength, smaller head than average age. Luckily there are still things to do to help people with Cri-du-chat. They can go through therapy to help them achieve more of the average age they are. They can also stay in a safe and helpful environment that's good for the patient.
Cri-Du-Chat is most recognized or diagnosed in the early stages when they resemble the mewing of a cat
Diagnostics and Preventing Cri-Du-Chat
Doctors can almost all the time diagnose it by their cat like cry. They can also look for poor muscle tone or mental retardation. They can also test the baby before it's born. They take a sample of tissue or a sample of the amniotic fluid to see if there are any problems. Right now there isn't any way to prevent this syndrome. Now, like I said before you could get therapy to improve muscles and motor skills but never able to achieve full function. It's not like your going to die from it, you'll still have a normal life span and can achieve a more normal life.
Helping With Cri-Du-Chat Patient
In one study, only half the people with Cri-du-chat could feed themselves at 3.5 years of age. On average, a normal boy or girl can feed themselves at about 18 months. That's about 2 years before a child with Cri-du-chat syndrome.
Patients Don't Eat Themselves Until About 3.5 Years of Age
Organizations That Are Helping Today
The Nord Member Organization, 5p-Society, Cleft Lip and Palate Foundation of Smiles, Cri Du Chat Syndrome Support Group, Department of Human Genetics/Cri Du Chat, The Arc, March of Dimes, UNIQUE-Rare Chromosome Disorder Support Group, and Genetic and Rare Diseases (GARD) Information Center all support the Cri-du-chat syndrome.