Cri-Du-Chat Syndrome – Symptoms and Causes

Cri-Du-Chat Syndrome - Symptoms And Causes

What is Cri-du-chat syndrome?

Cri-du-chat syndrome (meaning cat’s cry or cry of the cat in French) is a rare genetic disorder that affects about 1 in 50,000 people worldwide. It is caused by a partial deletion on the small arm of chromosome 5. This deletion leads to the Mal-development of several structures in the body.

Cri-du-chat syndrome is characterized by high-pitched cat-like crying, low birth weight, slow growth, overall learning disability, small head size and short fingers.

What are the symptoms of Cri-du-chat syndrome?

Here are signs and symptoms Of Cri-du-chat Syndrome:

  • High pitched cat cry (commonly seen in infants and disappear by age 2).
  • Problems with swallowing and sucking
  • Down-slanting palpebral fissures (eyelids)
  • Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye)
  • Strabismus
  • Aggressive outbursts 
  • Repetitive hand movements
  • Failure to thrive (poor growth)
  • Low-set ears
  • Mental retardation
  • Delayed development (delays in walking)
  • Distinctive facial features
  • Single palmar creases 
  • Short fingers
  • Low birth weight
  • Hyperactivity (child refuse to sit still)
  • Hypotonia (decreased muscle tone) 
  • Flat nasal bridge
  • Down-turned mouth
  • Promise with speech and language

What Causes Cri-du-chat Syndrome?

In 90% of cases, Cri-du-chat Syndrome is usually not inherited, while in 10% of cases, there is an inheritance of the chromosome with the deleted segment from an unaffected parent. This occurs when the parent has a chromosomal arrangement called a balanced translocation. A balanced translocation does not cause any problems usually, but they can become unbalanced when they are being transferred on to the next generation. The deletion of a part of a chromosome is one of the problems that arise when a balanced translocation becomes unbalanced.

How is Cri-du-chat syndrome diagnosed?

Cri-du-chat syndrome is usually diagnosed after birth. The classic high pitched cry and genetic testing confirm Cri-du-chat syndrome. 

How is Cri-du-chat syndrome treated?

There are no specific treatments for Cri-du-chat syndrome. Certain symptoms may be managed by speech, physical, and occupational therapists. 

Correctional Heart surgery is done in the presence of a heart defect. Infants who have difficulty in suction or swallowing usually requires physical therapy within the first few weeks after birth. 

Complications Of Cri-du-chat Syndrome include:

  • Ventricular septal defect
  • Atrial septal defect
  • Patent ductus arteriosus
  • Tetralogy of Fallot
  • Scoliosis

For more information about Cri-du-chat syndrome, you should talk to your physician.