Cri du chat

Cri du chat Definition

Cri du chat is a rare genetic condition [¹] that occurs when a part of chromosome number 5 is absent.

It is also referred to as:

• Chromosome 5p deletion syndrome
• 5p minus syndrome
• Lejeune’s syndrome

Cri du chat History

The syndrome was first described in 1963 by Jerome Lejeune, a French geneticist and pediatrician.

Cri du chat Epidemiology

It is estimated to affect one in every 20,000-50,000 newborns [³]. The disease is reported in people of all ethnic backgrounds. The frequency is greater in girls. The female to male ratio of this disorder is 4:3.

Cri du chat Symptoms

Its signs and symptoms include:

• High-pitched or weak crying sounds, similar to that of a cat
• Small head (microcephaly)
• Low birth weight
• Rounded face
• Small jaw (micrognathia)
• Eyes placed wide apart
• Broad, flattened nose bridge
• Skin folds above the eyelids
• Malformed ears
• Palatal abnormalities, characterized by high or unusually narrow palates
• Intellectual disability
• Feeding problems, due to difficulties in sucking and swallowing
• Behavioral problems, like aggression, hyperactivity, repetitive movements and tantrums
• Weak muscle tone (hypotonia) in infancy
• Retarded or incomplete motor skill development
• Single line in the palm
• Downward slant to the eyes
• Renal malformations, such as horseshoe kidneys (rare)

Cri du chat Causes

It arises due to deletion of the short arm-end of chromosome number 5. This change is referred to as 5p-. The size of the deletion differs from one patient to another. As per studies, developmental delay and intellectual disability are more acute in larger deletions than in smaller ones. According to researchers, the loss of a particular gene CTNND2 is linked with acute intellectual disability.

The majority of cases are supposed to arise during development of the sperm or the egg. A small number of cases arise due to passing of a varying, rearranged form of the 5^th chromosome from parents to baby.

It is still unclear as to how the loss of genes results in the problems associated with Cri du chat.

Cri Du Chat and Inheritance

Most cases are not inherited. Only around 10% patients inherit the chromosomal abnormality from one unaffected parent. In such cases, the parent is a carrier of a balanced translocation (a chromosomal rearrangement) in which no genetic component is lost or gained.

Typically, victims do not have any family history of the syndrome. The deletion usually occurs randomly during early stages of fetal development or during the formation of eggs or sperm.

Cri du chat Diagnosis and Testing

The condition is generally diagnosed at birth. Doctors discuss with parents about the characteristics in their infants. Diagnosis usually begins with a physical exam, which may reveal:

• Poor muscle tone
• Inguinal hernia
• Diastasis recti (separation of belly muscles)
• Problems with the folding of the outer ears
• Epicanthal folds, additional skin folds above the inner corner of the eye

X-rays of skull may show possible problems with the basal shape of skull. Genetic tests can reveal deletion of a section of chromosome 5 [²]. The deletion may also be revealed through amniocentesis [⁴] or analysis of chrionic villi samples of carriers.

Ultrasound scans may also be required in some cases.

Cri du chat Treatment

There is no particular cure. Physicians only suggest ways for symptomatic treatment or management. Parents of sufferers can visit genetic counselors to conduct testing and determine which one of them is having a change in chromosome 5. Adults with a family background of Cri du chat should undergo genetic testing.

Heart defects [⁵] often need surgical correction. After leaving hospital, regular visits to health care providers are necessary.

Cri du chat Prognosis

The outcome is mixed, as there is no specific cure. Half of all sufferers learn enough verbal skills to interact as normally as possible, despite impaired language development. The cat-like cry gets less apparent with time. With physical therapy and consistent educational intervention, quality of life is highly improved [⁶]. However, intellectual disability is commonly noticed.

Cri du chat Complications

The complications are based on the amount of symptoms and intellectual impairment. Physical and mental symptoms may affect the level of dependence of sufferers on themselves.

Can Cri du chat Kill You?

Majority of sufferers have a normal life expectancy. Life span can be reduced in a small number of patients with severe organ defects or other life-threatening problems. It is not fatal in most cases.

Cri du chat Prevention

No specific way is known to prevent this syndrome. Couples with a family history of Cri du chat, and planning pregnancy, may consider genetic counseling.

Cri Du Chat Support Groups

Although it is a rare disorder, there are various support groups that offer guidance and information to parents of Cri Du Chat sufferers. Parents may contact such organizations as:

Genetic Science Learning Center

University of Utah

383 Colorow Dr.

Salt Lake City, Utah 84108

Phone: (801) 585-3470

Cri du Chat Syndrome Support Group [⁷]

5 Latimer Drive

Steeple View

Laindon

Essex

SS15 4AD

Tel: 0845 094 2725

Web: www.criduchat.org.uk

Cri du Chat Support Group of Australia Inc.

Association number A0033602W

104 Yarralumla Drive, Langwarrin, VIC, 3910, Australia

Phone or Fax: 61 3 9775 9962 (Wendy)

Cri du chat Pictures

The following images show the abnormal facial features of Cri du chat patients.

Picture 1 – Cri du chat

Picture 2 – Cri du chat Image

Cri du chat ICD9 Code

Its ICD9 Code is 758.31.