Cri

Cri du Chat Syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	High-pitched cry, intellectual disability, delayed development
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Deletion of the short arm of chromosome 5
Risks
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Variable
Frequency	1 in 20,000 to 50,000 live births
Deaths	N/A

Cri du Chat Syndrome (also known as 5p- 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 mewing of a cat.

Etiology

Cri du Chat Syndrome is caused by a deletion of the short arm of chromosome 5, specifically the region known as 5p15.2. This deletion can vary in size and is typically de novo, meaning it occurs as a new mutation in the affected individual. In rare cases, it can be inherited from a parent with a balanced translocation.

Epidemiology

The syndrome occurs in approximately 1 in 20,000 to 50,000 live births. It affects individuals of all ethnic backgrounds and both sexes equally.

Clinical Features

The most distinctive feature of Cri du Chat Syndrome is the high-pitched, cat-like cry, which is present in the neonatal period. Other clinical features include:

• Microcephaly
• Intellectual disability
• Delayed development
• Hypotonia
• Distinctive facial features such as a round face, wide-set eyes, and a small jaw
• Low birth weight and slow growth
• Scoliosis
• Heart defects

Diagnosis

Diagnosis of Cri du Chat Syndrome is primarily based on clinical features and confirmed by genetic testing. Karyotyping can reveal the deletion on chromosome 5, and more precise techniques such as fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH) can be used to identify the specific deletion.

Management

There is no cure for Cri du Chat Syndrome, and management is supportive and symptomatic. Early intervention programs, including physical therapy, occupational therapy, and speech therapy, are crucial for improving developmental outcomes. Regular follow-up with a multidisciplinary team is recommended to address the various medical, developmental, and educational needs of the individual.

Prognosis

The prognosis for individuals with Cri du Chat Syndrome varies depending on the severity of the deletion and associated symptoms. While intellectual disability is common, many individuals can achieve a degree of independence with appropriate support. Life expectancy is generally normal, although it may be reduced in cases with severe congenital anomalies.

Genetic Counseling

Genetic counseling is recommended for families of affected individuals to discuss the risk of recurrence in future pregnancies. In most cases, the deletion occurs de novo, but if a parent carries a balanced translocation, the risk of recurrence is higher.

Research Directions

Ongoing research aims to better understand the genetic basis of Cri du Chat Syndrome and to develop targeted therapies. Advances in genomic medicine may offer new insights into the management and treatment of this condition.

See Also

• Genetic disorder
• Chromosomal deletion
• Developmental delay

External Links

• National Human Genome Research Institute - Cri du Chat Syndrome
• Genetic and Rare Diseases Information Center - Cri du Chat Syndrome