Disease Information for Cri du Chat/Chromosome 5p (5p15.2)

Cat Cry Syndrome

gene locus 5p15-2; Cat Cry Syndrome; cri-du-chat syndrome is a well-described partial aneusomy resulting from deletion of the short arm of chromosome 5; Hereditary and congenital syndrome associated with deletion of part of the short arm of chromosome 5; The deletions can vary in size from extremely small and involving only band 5p15_2 to the entire short arm; Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination in one of the parents (Mutation); Cri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe psychomotor and mental retardation; One of the most characteristic features in newborn children is a high-pitched cat-like cry that is usually considered diagnostic for the syndrome; Although the majority of patients die in early childhood, some survive into adulthood and exhibit an IQ below 20, a loss of hypertelorism and epicanthic folds, and development of a thin, narrow face with prominent nasal bridge; Older patients with 5p deletion syndrome, with ages ranging from 16 to 47 years; Some of the clinical characteristics, such as long face, macrostomia, and scoliosis, became more evident; All patients were severely or profoundly mentally retarded; resembled that of Angelman syndrome;Most patients had periods of destructive behavior, self mutilation, and aggression; Although the voice will naturally lower as the child grows, the characteristic high pitch often persists into adulthood; The size and location of the deletion appears to have some correlation with the severity of effect of the syndrome on the child affected; Babies are often of low birth weight and many require help with feeding in infancy; Feeding difficulties often persist for the first few years with many experiencing reflux and swallowing problems; monotone, weak, cat-like cry; Small head (microcephally) ; High palate; Round face; Small receding chin (micrognathia); Widely spaced eyes (hypertelorism); Low set ears ; Low broad nasal ridge; Folds of skin over the upper eyelid (epicanthic folds); Distinctive palmar creases (creases on the palms of the hands);Problems; Heart defects (commonly Ventral Septal Defects and Atrial Septal Defects and rarely tetralogy of Fallot and endocardial cushion defects) ; Cleft Palate; Kidney abnormalities; hip dislocation and deformities of the feet; Scoliosis; Hernias; Bowel abnormalities; Epilepsy;

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