Monosomy 5p syndrome

Monosomy 5p syndrome, also known as Cri-du-Chat syndrome (cat cry syndrome) or 5p deletion syndrome (5p minus syndrome), is a chromosomal disorder caused by a partial deletion of the short arm (p) of chromosome 5. The size of the deletion varies among affected individuals and correlates with the severity of symptoms. The syndrome derives its most recognizable name from the distinctive high-pitched, monotone cry of affected infants, which resembles the mewing of a cat and is caused by abnormalities of the larynx and nervous system. This characteristic cry typically becomes less prominent as the child grows older. The condition affects multiple body systems. Key clinical features include intellectual disability of variable severity, delayed motor and language development, microcephaly (abnormally small head), low birth weight, distinctive facial features (widely spaced eyes, low-set ears, small jaw, and a rounded face), and hypotonia (poor muscle tone) in infancy. Some individuals may also have congenital heart defects, feeding difficulties, and behavioral challenges such as hyperactivity, self-injurious behavior, or aggression. Growth retardation is common during childhood. There is no cure for Monosomy 5p syndrome, and management is supportive and symptomatic. Early intervention programs including speech therapy, physical therapy, occupational therapy, and special education are essential to maximize developmental potential. Surgical correction may be required for congenital heart defects or other structural anomalies. With appropriate support, many individuals with this condition can develop social and motor skills, and life expectancy can be near normal, though most individuals require lifelong assistance. Genetic counseling is recommended for families, particularly when a parental balanced translocation is identified as the underlying cause.

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