Crying Cat Syndrome (Cri-du-Chat)

               Crying cat syndrome, also called Cri-du-chat or 5P syndrome, is a genetic condition where your baby is born with a deletion on the short arm of chromosome 5. The condition is rare and occurs in only about 1 in 20,000 to 1 in 50,000 newborns. Yet, it is one of the most common syndromes caused by chromosomal deletion.

Like its name implies, the syndrome makes infants produce a high-pitched cry similar to a cat. (“Cri-du-chat” means “cry of the cat” in French.) The cry is caused by an abnormal development of your child’s larynx due to the chromosome deletion. The syndrome is more noticeable as your child ages, but becomes difficult to diagnose past the age of two.

Causes 
The exact reason for the chromosome 5 depletion is unknown. In most cases, though, the chromosome break happens while the parent’s sperm or egg cell is still developing. When fertilization occurs, your child develops the syndrome. About 80 percent of affected children experience chromosome deletion that comes from their father’s sperm.

Symptoms 
- The cat-like cry, which is the most common symptom, becomes less noticeable over time.
- Small chin
- Unusually round face
- Small bridge of the nose
- Folds of skin over their eyes
- Abnormally wide-set eyes (ocular or orbital hypertelorism)
- Abnormally shaped or low-set ears
- A small jaw (micrognathia)
- Partial webbing of the fingers or toes
- Single line on the palm of the hand
- An inguinal hernia (a protrusion of organs through a weak area or tear in the abdominal wall)
- Skeletal problems like scoliosis (abnormal curvature of the spine)
- Heart or other organ defects
- Poor muscle tone (during infancy and childhood)
- Hearing and vision difficulties

Diagnosis 
1. Doctors usually diagnose crying cat syndrome at birth, based on physical abnormalities and displayed symptoms.
2. X-ray on your child’s head to detect abnormalities in the base of the skull
3. To confirm a diagnosis, a chromosome test often will be performed

Treatment 
There is no specific treatment for crying cat syndrome. You can help manage the symptoms with physical therapy, language and motor skill therapy, and education intervention.

Prevention 
There is no known way to prevent crying cat syndrome. If you have a family history of the syndrome, even if you don’t display symptoms, you still may be a carrier, and should consider a genetic test.

You also may carry a type of defect called a balanced translocation, which is a defect in the chromosome that does not result in the loss of genetic material. However, if you pass the defective chromosome to your child, it may become unbalanced, which results in the loss of genetic material and can cause the syndrome.