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Cri Du Chat

Crying Cat
Picmonic

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.

11 KEY FACTS
PATHOPHYSIOLOGY
Congenital Deletion of Short Arm of Chromosome 5p
Cutting off Chromosome of (5) Hand on Short Arm

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”

SIGNS AND SYMPTOMS
High Pitched Cry/Mewing
High Pitched Crying Meow

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
Small-head

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.

Hypotonia
Floppy Hippo-baby

Patients with Cri Du Chat will present with hypotonia, failure to thrive, and developmental delay.

Difficulty Sucking and Swallowing
Difficulty Sucking

Due to the microcephaly and psychomotor retardation, patients with Cri Du Chat have difficulty with sucking and swallowing.

Epicanthal Folds
Epicanthal Folds

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.

Widely Spaced Eyes
Wide Spaced Eyes

Patients typically have orbital hypertelorism, which results in an abnormally wide space in between the patient’s eyes.

Wide & Flat Nasal Bridge
Wide & Flat Nasal Bridge

Another common feature in patients with Cri Du Chat is a wide and flat nasal bridge.

High Arched Palate
High Arched Palette

A high-arched palate is a variable feature in patients with Cri Du Chat. The palate is narrow and high.

Intellectual Disability (Mental Retardation)
Read-tarred book

The severity of psychomotor retardation is dependent on the size of the deletion.

Cardiac Abnormalities
Abnormal Heart

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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