Cri du chat syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Cri du chat syndrome
Synonyms	5p− syndrome, Lejeune’s syndrome
Pronounce
Specialty	Medical genetics
Symptoms	High-pitched cat-like cry, microcephaly, intellectual disability, delayed development, distinctive facial features
Complications	N/A
Onset	At birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutation (deletion of the short arm of chromosome 5)
Risks
Diagnosis	Karyotype
Differential diagnosis	Down syndrome, Edwards syndrome, Patau syndrome
Prevention	Genetic counseling
Treatment	Supportive care, speech therapy, physical therapy
Medication
Prognosis	Varies; many individuals live into adulthood
Frequency	1 in 20,000 to 50,000 live births
Deaths

Cri du chat syndrome

Child with Cri du chat syndrome

Cri du chat syndrome, also known as 5p minus syndrome, is a rare genetic disorder caused by a deletion of a portion of chromosome 5. The name "cri du chat" is French for "cry of the cat," referring to the characteristic high-pitched cry of affected infants, which resembles the sound of a cat meowing.

Genetics

Cri du chat syndrome is caused by a deletion of the end of the short arm of chromosome 5 (5p-). The size of the deletion varies among individuals, and larger deletions tend to result in more severe symptoms. The deletion can occur spontaneously during the formation of reproductive cells or in early fetal development. In most cases, it is not inherited from a parent.

Symptoms

The most distinctive symptom of cri du chat syndrome is the high-pitched, cat-like cry in infancy. Other symptoms may include:

• Microcephaly (small head size)
• Intellectual disability
• Delayed development
• Distinctive facial features, such as a round face, wide-set eyes, and a small chin
• Low birth weight
• Weak muscle tone (hypotonia)

Diagnosis

Diagnosis of cri du chat syndrome is typically made based on the characteristic cry and physical features. Genetic testing, such as karyotyping or fluorescence in situ hybridization (FISH), can confirm the presence of a deletion on chromosome 5.

Management

There is no cure for cri du chat syndrome, but early intervention and supportive care can improve outcomes. Management may include:

• Speech therapy
• Physical therapy
• Occupational therapy
• Special education services

Prognosis

The prognosis for individuals with cri du chat syndrome varies depending on the size of the deletion and the severity of symptoms. With appropriate support and intervention, many individuals can lead fulfilling lives.

See also

• Genetic disorder
• Chromosome 5 (human)
• Intellectual disability