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Cri du chat syndrome

Alternative Names: Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome Symptoms: High-pitched cry sounds like a cat Low birth weight and slow growth Small head (microcephaly ) Wide-set eyes (hypertelorism) Downward slant to the eyes (palpebral fissures) Small jaw (micrognathia ) Low-set ears (may be malformed) Skin tags just in front of the ear Partial webbing or fusing of fingers or toes Single line in the palm of the hand (simian crease ) Mental retardation Slow or incomplete development of motor skills Signs and tests: In addition to the other findings (listed with Symptoms), physical examination may show: Inguinal hernia Diastasis recti (separated abdominal muscles) Low muscle tone Epicanthal folds, an extra fold of skin over the inner corner of the eye Incompletely or abnormally folded external ears A missing portion of the short arm of chromosome 5 seen on chromosome analysis (if not, a more detailed type of genetic test called FISH analysis may reveal that a small piece of this chromosome is missing) An abnormal angle to the base of the skull seen on lateral skull x-ray

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