Cri Du Chat is the result of a congenital partial deletion that most commonly occurs de novo. Like most other microdeletions, this one causes a syndrome.
Cri Du Chat is a result of a de novo partial deletion of Chromosome 5p. As such, it is classified as one of the “5p- syndromes”
A hallmark of Cri Du Chat is a high-pitched cry, which is due to an underdeveloped, dysmorphic larynx. The high-pitched cry usually resolves by age 2.
Microcephaly or a shrunken head, is the most prominent clinical feature of Cri Du Chat syndrome. Research has shown a strong genotype-phenotype correlation of the degree of severity in the microcephaly and the amount of partial deletion that occurs in 5p.
Patients with Cri Du Chat will present with hypotonia, failure to thrive, and developmental delay.
Due to the microcephaly and psychomotor retardation, patients with Cri Du Chat have difficulty with sucking and swallowing.
Epicanthal folds occur when the skin of the upper eyelid covers the inner corners of the eyes, a common feature that is seen in Cri Du Chat.
Patients typically have orbital hypertelorism, which results in an abnormally wide space in between the patient’s eyes.
Another common feature in patients with Cri Du Chat is a wide and flat nasal bridge.
A high-arched palate is a variable feature in patients with Cri Du Chat. The palate is narrow and high.
The severity of psychomotor retardation is dependent on the size of the deletion.
Congenital heart defects (most commonly VSD), along with pneumonia and respiratory distress syndrome, are the most common causes of death in patients with Cri Du Chat.
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