Cri du chat syndrome (CdCS)
Evidence-based neurology checklist on cri du chat syndrome (cdcs): Genetics It is caused by deletions in chromosome 5p in 85% of cases Chromosome 5p translocation or inversion account for 15% of cases The incidence is 1 in 50,000 births It is more frequent in females Core features Dysmorphic…
Genetics
- It is caused by deletions in chromosome 5p in 85% of cases
- Chromosome 5p translocation or inversion account for 15% of cases
- The incidence is 1 in 50,000 births
- It is more frequent in females
Core features
Dysmorphic features
Ophthalmic features
Cerebellar features
Other neurological features
Behavioural features
Systemic features
Magnetic resonance imaging (MRI) brain: features
References
- Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006; 1:33.
- Colover J, Lucas M, Comley JA, Roe AM. Neurological abnormalities in the 'cri-du-chat' syndrome. JNNP 1972; 35:711-719.
- Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Cri du chat syndrome: changing phenotype in older patients. Am J Med Genet 2000; 90:203-215.
- Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet 1999; 36:567-570.
