Cri du Chat syndrome
The clinical and cytogenetic signs of 5p deletion syndrome (or “cri-du-chat” syndrome, CdCS) were first described in 1963 by Prof Jérôme Lejeune and his collaborators.
The prevalence of this pathology is 1/20,000 to 1/50,000 and is one of the more frequent chromosomal deletions. The name of this disease is linked to the fact that 5p deletion syndrome infants cry in a way resembling a small cat, due to the narrowness of their larynx. This cry is present during the first weeks of life and changes later.
This syndrome is caused by a deletion of varying sizes, including a critical region at p15.2, of the short arm of the 5th chromosome, present in all cells (some mosaic cases have also been reported). Management includes treatments depending on the different symptoms. The clinical signs include a characteristic craniofacial dysmorphism (microcephaly, round face, hypertelorism) which evolves with age, and intellectual disability.
The associated malformations may be of cardiac or visceral origin (the latter being relatively rare and not very specific). Patients generally suffer from a delay in growth and hypotonia (weakened muscle tone)