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Cri du Chat syndrome
What are the symptoms?
The hallmark cat-cry is a core feature of Cri du Chat syndrome and is still regarded as an important early clinical diagnostic feature in most but not all individuals. Many infants tend to be of low birthweight and show marked hypotonia. Feeding difficulties are common and the associated failure to thrive may be the initial clinical presentation. Some infants may require enteral feeding, a process which may have to continue for several years. Certain facial and head abnormalities are also over represented: microcephaly, micrognathia, rounded face, macrostomia, hypertelorism with downward sloping palpebral fissures, low set ears, broad nasal ridge and short neck. Structural laryngeal abnormality and hypotonia are thought to be responsible for the cat-like cry.
The phenotype tends to become less striking with advancing age which may result in diagnostic difficulty in these circumstances; conversely, other features tend to become more apparent: long face, scoliosis and macrostomia (Van Buggenhout et al 2000). In addition to the major health problems already described, children with Cri du Chat syndrome are very prone to develop recurrent upper respiratory tract infections, otitis media and dental problems. In contrast, the prevalence of epilepsy is very low compared to heterogeneous samples of people with severe learning disabilities (Cornish and Pigram 1996). Once patients manage to negotiate childhood, they can probably expect to live a normal life-span.
Background
| Psychological and behavioural characteristics 
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