Cri du Chat Syndrome, also known as 5p- Syndrome, is a rare genetic disorder characterized by a distinct set of physical and developmental abnormalities. The term "Cri du Chat" is derived from the French term meaning "cry of the cat," aptly describing the characteristic cat-like cry of affected infants. This syndrome is caused by a deletion in the short arm of chromosome 5, affecting the DNA sequence.
Individuals with Cri du Chat Syndrome exhibit a range of physical and developmental features. These include a high-pitched, cat-like cry during infancy, which may fade as they grow older. Facial abnormalities such as a small head, wide-set eyes, a flat nasal bridge, a downward-slanting palpebral fissure (eye-opening), and low-set ears are also common. Moreover, affected individuals may display physical growth delays, intellectual disabilities varying in severity, delayed motor development, and speech impairments.
Other medical issues associated with Cri du Chat Syndrome include poor muscle tone (hypotonia), feeding difficulties during infancy, growth hormone deficiency, scoliosis, and respiratory problems. Additionally, individuals may experience behavioral challenges, including hyperactivity, aggression, self-injurious behavior, and social withdrawal.
Diagnosis of Cri du Chat Syndrome is usually made based on clinical presentation, physical examination, and genetic testing to confirm the deletion of genetic material on chromosome 5. Although there is no cure for this syndrome, appropriate management involves addressing specific symptoms and providing early intervention therapies, such as physical, occupational, and speech therapy, to optimize individuals' quality of life and overall development. Close monitoring by a team of healthcare professionals, including genetic specialists, pediatricians, and therapists, is crucial in ensuring comprehensive and tailored care for individuals with Cri du Chat Syndrome.
