Cri du chat syndrome

Chromosome 5p délétion syndrome / 5p minus syndrome  / Cat Cry syndrome

Cri du chat is a neurodevelopmental disorder. The syndrome is characterized by a peculiar type of  cry which infant’s like and with high pitched sound .

Incidence

1 in 20,000-50,000 children

Signs and Symptoms

• Low muscle tone
•  Low cognition / Intellectual disability
•  Delayed or very poor motor skills
•  Microcephaly (Small head)
•  Facial dysmorphism like wide set eyes, skin tags in front of the ear, small jaw, fusing of fingers or toes
•  Cat like cry
•  Presence of inguinal hernia
•  Feeding difficulties, GER, Constipation
•  Hearing loss and vision defects

Causes

• Genetic
•  5p Chromosome deletion

Diagnosis Making

• The condition can be diagnosed at birth due to the physical abnormalities and cat like cry.
• X ray of the skull is done to see the abnormalities at the base of the skull
• FISH (Fluorescence in situ hybridization) a specialized chromosome test to detect chromosomal deletion

Treatment / Management

Although there is no cure of cri du chat syndrome is available but with proper medical management and therapies, children can be helped to lead better life.

• Medications for gastrointestinal problems, kidney problems, poor immunity
• Therapies in the forms of physiotherapy especially for low muscle tone, occupational therapy for ADL independency, speech therapy for communication skills and special education for cognitive behaviour enhancement. Nutritional support is also advisable

Prognosis

Life span of people with cri du chat syndrome is good up to 50 years. Severe children die within the first year of life only

If you want to know more about Cri du chat Syndrome or want to consult us, please contact us  Mail: helpicd@gmail.com,  Whatsapp: +91-7838809241,  Voice Call: +91-11-41012124