Cri du chat syndrome

Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 22,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Signs and symptoms

The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include:

feeding problems because of difficulty in swallowing and sucking

mutism

low birth weight and poor growth

severe cognitive, speech and motor disabilities

behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements

unusual facial features, which may change over time

excessive drooling

small head (microcephaly) and jaw (micrognathism)

widely-spaced eyes (hypertelorism)

skin tags in front of ears

Other common findings include hypotonia, a round face with full cheeks, epicanthal folds, down-slanting palpebral fissures (eyelids), strabismus, flat nasal bridge, down-turned mouth, low-set ears, short fingers, single palmar creases and cardiac defects (e.g., ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot). Infertility is not associated with Cri du chat.

It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of speech therapy/aid with the help of a professional.