Cri Du Chat syndrome

Cri du chat syndrome (also known as Cat Cry Syndrome, chromosome 5p‑ syndrome, 5p deletion syndrome, monosomy 5p, or 5p‑ syndrome) is caused by a partial or complete deletion (absence or shortening) of the short arm of chromosome 5 (5p). It is a rare genetic disorder resulting from a missing segment of chromosome 5; the variability of the condition depends on the specific deleted region and the amount of genetic material lost from the short arm. The syndrome is named after the sounds made by affected infants, as their cries resemble a cat’s meowing. 

The disorder was first described by Jérôme Lejeune in 1963. It occurs more frequently in females, with an estimated incidence of 1 in 20,000–50,000. In reality, the condition may be somewhat more common, as individuals with Cri du chat syndrome are more likely to be lost through spontaneous miscarriage. This genetic disorder is caused by a spontaneous mutation, in 80–90% of cases of paternal origin—i.e., the spontaneous mutation arises in the sperm.

Additional symptoms include delayed psychomotor development, characteristic facial features, intellectual disability, and growth impairment.

Diagnosis

Diagnosis is based on recognition of the characteristic cry and associated clinical features. As part of the diagnostic process, genetic testing must be performed, including DNA analysis and confirmation of a mutation on the short arm of chromosome 5. Prenatal diagnosis is performed by amniocentesis in pregnant women with a positive family history of Cri du chat syndrome.

Treatment

As with other genetic disorders, Cri du chat syndrome cannot be causally cured. Treatment is therefore symptomatic and individualized, including occupational therapy and speech therapy. Other deformities, such as congenital heart defects, must be regularly monitored and surgically corrected if necessary. Intellectual disability and behavioral disorders require an individual approach and special educational support. Due to the severity of intellectual impairment, socialization and self‑care abilities of affected individuals are significantly limited.

• charakteristické "mňaukanie" detí, ktoré je dané problémami s hrtanom a nervovým systémom
• problémy s prospievaním, keďže majú problémy s prehĺtaním a saním
• nízka pôrodná hmotnosť
• charakteristické črty tváre
• pomalý/oneskorený rast
• mikrocefália
• oneskorený psychomotorický vývoj
• porucha intelektu rôzneho stupňa
• abnormality kostry - napr. skolióza