What is Cri Du Chat Syndrome – Symptoms, Diagnosis and Management

Individuals lacking chromosome 5 suffer from a rare genetic disease known as Cri du chat syndrome. Babies born with this disorder cry like meowing kittens owing to the problems in nervous system and the larynx. They stop crying completely by the age of 2.

Females are more at risk of developing this condition as the ratio stands at 4:3. It was discovered in 1963 and affects 1 in every 50,000 children at the time of birth. Its other names are 5p minus syndrome, chromosome 5p deletion syndrome and Lejeune’s syndrome.

Cri Du Chat Syndrome

Symptoms of Cri Du Chat Syndrome:

  • Problems in feeding
  • Swallowing
  • Sucking
  • Poor growth
  • Low birth weight
  • Severe motor skills delay
  • Severe cognitive delays
  • Severe speech delays
  • Excessive drooling
  • Constipation
  • Unusual changes in the facial features constantly changing with time
  • Aggression
  • Hyperactivity
  • Repetitive movements
  • Tantrums
  • Round face with full cheeks
  • State of low muscle tone – Hypotonia
  • A neurological disorder called microcephaly
  • Skin fold of the upper eye lid – Epicanthic fold
  • Abnormally increased distance between two body parts – hypertelorism
  • Short fingers
  • Low set ears
  • Down turned mouth
  • Improper alignment of the eyes – Strabismus
  • Flat nasal bridge
  • Cardiac disorder
  • Cleft lip and palate
  • Dislocated hips
  • Undersized jaw – Micrognathism
  • Complex rotation of the gut outside the abdomen – Intestinal malrotation
  • Abnormal dilution of the colon – Megacolon
  • Absence of one or both the testes in the scrotum – Cryptorchidism
  • Genetic disorder involving abnormally placed urethra in the male – Hypospadias
  • Kidney failures
  • Deformity in one foot or the both from the birth time – Talipes equinovarus
  • Pes planus or flat feet

Diagnosis and Management of Lejeune’s Syndrome:
The distinct cry of the baby is the indication of the disease. Other accompanying conditions further confirm the existence of the disorder.

It is followed out carrying out genetic testing and giving genetic counseling to the family members of the patient. It is possible to find out the deletion of the chromosome 5 in the baby by examining the fluid surrounding the fetus when it is in the mother’s womb.

The problems related to the heart require surgery. The speech, sound and other complexities related to growth can be treated by respective therapists.

Conclusion: As it is the case with any genetically disease, people suffering from Cri du Chat syndrome have to under extended treatment regime which can test the very character of the family members apart from taking a toll on their financial status.

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