Updated April 25, 2014.

Cri du Chat Syndrome is a rare genetic condition that is also known as 5 P Minus (5P-) or as Lejeune’s syndrome. According to Genome.gov , the clinical symptoms “usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.

The cat-like cry typically becomes less apparent with time.”

The geneticist Jerome Lejeune, discovered the condition in 1963. He also identified the genetic abnormality that is responsible for Down’s Syndrome.

Diagnosis

The diagnosis of Cri du Chat Syndrome usually occurs at birth by an attending physician. Prominent facial features, as well as the high-pitched cat-like cry are often strong indicators of the condition. A chromosome analysis may be performed, which shows the short arm of chromosome 5. An additional test, FISH analysis, may also be performed to confirm diagnosis.

Cause of Cri du Chat

According to the Genetics Science Learning Center at the University of Utah , “a deletion is caused by a break in the DNA molecule that makes up a chromosome. In most cases, the chromosome break occurs while the sperm or egg cell (the male or female gamete) is developing. When this gamete is fertilized, the child will develop cri-du-chat syndrome. The parent, however, does not have the break in any other cells of the body and does not have the syndrome.

In fact, the break is usually such a rare event that it is very unlikely to happen again if the parent has another child. It is possible for a child to inherit a broken chromosome from a parent who also had the disorder.”

Treatment

There is no known cure for Cri du Chat Syndrome, however, various therapies are available that can assist children with language skills and learning. With the help of therapists, doctors and supportive caregivers, a child with Cri du Chat can reach their potential and live a full life.

Support

Caregivers and individuals with Cri du Chat Syndrome can find information and support through various organizations, which include the following:

• Five P Minus - a family support group for children with Cri du Chat Syndrome
• Cri du Chat Syndrome Support Group - a support group for families and children, based in the UK
• Genetic and Rare Diseases Information Center - provides information on 5 P Minus
• Madisons Foundation - helps to connect parents who have children with rare diseases, including 5 P Minus. Offers an extensive online library of information written by medical specialists
• MUMS National Parent to Parent Network – connects parents and caregivers of children with rare diseases; includes information and funding for various health therapies
• UNIQUE - Rare Chromosome Disorder Support Group - provides information to families, individuals and professionals. UNIQUE is based in the UK, but is open to members worldwide
• March of Dimes Birth Defects Foundation - provides information and support to families and caregivers of children with chromosomal abnormalities
• Chromosome Disorder Outreach, Inc. - provides information and support to caregivers and individuals worldwide. The organization has an extensive online library, a registry and a listserv that is available 24/7

Disability Eligibility

Cri du Chat Syndrome is designated as a Compassionate Allowance Condition by the Social Security Administration. Individuals who have this condition are eligible for expedited Social Security Disability Income from the SSA. This program makes it possible for eligible individuals to receive benefits within a few months or even weeks, instead of a year or more for traditional SSDI applicants. Parents or caregivers should contact their local Social Security Administration office for more information on this expedited SSDI application process.