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