Cat-cry syndrome

Cat-cry syndrome, also known as Cri du Chat syndrome or 5p- syndrome, is a rare genetic disorder due to a deletion on the short arm of chromosome 5. The name of the syndrome, "cri du chat" or "cat cry", is derived from the characteristic high-pitched cry of affected infants, resembling that of a kitten. This condition was first described by French geneticist Jérôme Lejeune in 1963.

Symptoms and Characteristics

The clinical symptoms of Cat-cry syndrome are diverse and can vary significantly among individuals. However, common features include:

• A high-pitched, cat-like cry in infancy
• Low birth weight and slow growth
• Microcephaly (small head size)
• Round face with full cheeks
• Hypertelorism (wide spacing between the eyes)
• Epicanthal folds
• Low-set ears
• Intellectual disability and developmental delays
• Behavioral problems such as hyperactivity and aggression
• Cardiac anomalies
• Skeletal and muscular abnormalities

Causes

Cat-cry syndrome is caused by a deletion of a part of the short arm of chromosome 5 (denoted as 5p-). This deletion occurs randomly and is not usually inherited from the parents. The size of the deletion can vary among individuals, which may contribute to the variability in symptoms and severity of the syndrome.

Diagnosis

Diagnosis of Cat-cry syndrome is based on clinical observation and confirmed by genetic testing. A technique called fluorescence in situ hybridization (FISH) is commonly used to identify the chromosomal deletion associated with the syndrome.

Treatment

There is no cure for Cat-cry syndrome, and treatment is supportive and symptomatic. Early intervention programs that include physical, occupational, and speech therapy can help improve development. Regular medical evaluations are necessary to monitor and manage potential health issues, including heart defects, feeding difficulties, and respiratory problems.

Prognosis

The prognosis for individuals with Cat-cry syndrome varies depending on the severity of symptoms and the presence of congenital anomalies. With appropriate medical and developmental support, many individuals with this syndrome can lead a relatively healthy life, although they may have ongoing physical and intellectual challenges.

Epidemiology

Cat-cry syndrome is a rare disorder, with an estimated incidence of 1 in 20,000 to 50,000 live births worldwide. It affects individuals of all ethnic backgrounds.

See Also

• Genetic disorder
• Chromosomal abnormalities
• Intellectual disability

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