Criduchat syndrome

This is the most common form of human deletion syndrome with an incidence of 1 in 20 000 to 1 in 50 000 births. (56> This syndrome constitutes approximately 1 per cent of aetiology in profoundly mentally retarded population. The syndrome is caused by a deletion of the short arm of chromosome 5. Deletions vary in size from a band at 5p15.2 to the entire arm. The majority are caused by new mutations and about 12 per cent are due to unbalanced segregation of parental translocation or recombination. The syndrome is characterized by microcephaly, round face, hypertelorism, micrognathia, epicanthic folds, low-set ears, hypotonia, and severe psychomotor and mental retardation. The diagnostic feature of this syndrome is a high-pitched cat-like cry, which is possibly caused by abnormal laryngeal development and becomes less pronounced with age. Most of the affected subjects die in early childhood. The high-pitched cry has been mapped to proximal 5p15.3 and the rest of the features to 5p15.2.(57>

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