Cri Du Chat Syndrome

Question 1

Causes

Answer 1

also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced “five P minus”) or Lejeune’s syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.[1] Its name is a French term (“cat-cry” or “call of the cat”) referring to the characteristic cat-like cry of affected children.[2

Question 2

Signs and symptoms

Answer 2

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;
low birth weight and poor growth;
severe cognitive, speech and motor disabilities;
behavioral 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 eyes.
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 [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). Infertility is not associated with Cri du chat.