Cri du Chat syndrome

Abstract

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

“…Data as to dysmorphic features and neurological profile in CdC are largely available [1, 4], while data concerning methods and efficacy of rehabilitation are lacking or related to single case report [9]. In fact, Sigafoos et al [10] suggested how to develop rehabilitation programs, which should include strategies whose efficacy in children or adults with different types of neuromotor delay has already been demonstrated.…”

“…Cardiac and renal malformations may be also found. A molecular cytogenetic map of the deletion has been tentatively established [1]. …”

Neoplasia in Cri du Chat Syndrome from Italian and German Databases

“…Cri du Chat syndrome (CdC), caused by a deletion involving the short arm of chromosome 5, is observed in 1 : 15.000 to 1 : 50.000 newborns [1]. Nguyen et al [2] reported a comprehensive review of both clinical and molecular data, suggesting that life expectancy may be normal, in the absence of major malformations.…”

Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

“…Cri du chat syndrome (CdCS) is a rare (1:15 000 to 1:50 000 live births) 1 autosomal-dominant syndrome mainly caused by segmental deletions of chromosome 5p. 2,3 Respiratory issues are common in CdCS, with some infants having neonatal respiratory distress, 1 and pneumonia, bronchitis, and otitis media develop in approximately 30% of children with this syndrome.…”

“…2,3 Respiratory issues are common in CdCS, with some infants having neonatal respiratory distress, 1 and pneumonia, bronchitis, and otitis media develop in approximately 30% of children with this syndrome. 4,5 Despite the prevalence of respiratory issues in CdCS, many caregivers do not aggressively investigate other respiratory diseases because they assume these issues are secondary to chronic aspiration and hypotonia associated with CdCS.…”