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Cri du chat syndrome - Symptom

Alternative Names

Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome

Symptoms:

Cry that is high-pitched and sounds like a cat
Downward slant to the eyes
Low birth weight and slow growth
Low-set or abnormally shaped ears
Mental retardation (intellectual disability)
Partial webbing or fusing of fingers or toes
Single line in the palm of the hand
Skin tags just in front of the ear
Slow or incomplete development of motor skills
Small head (microcephaly)
Small jaw (micrognathia)
Wide-set eyes

Signs and tests:

The doctor will perform a physical exam. This may show:

Inguinal hernia
Diastasis recti (separatation of the muscles in the belly area)
Low muscle tone
Epicanthal folds, an extra fold of skin over the inner corner of the eye
Problems with the folding of the outer ears

Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an problems with the shape of the base of the skull.

Reviewed last on: 8/4/2011
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Descartes M, Carroll AJ. Cytogenetics. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 81.

Chromosome

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