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  • 5p-
  • Deletion of 5p
  • Chromosome 5p deletion syndrome
  • 5p minus deletion syndrome1
  • Cat cry syndrome1

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  • 758.31 Cri-du-chat syndrome

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  • Q93.4 Deletion of short arm of chromosome 5

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Description

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  • Genetic disorder: deletion of terminal chromosome 5p
    • Cry that sounds like a cat (likely due to abnormal shape in larynx and epiglottis)3
    • Characteristic facial features3
    • Developmental delay in gross motor skills, oral motor skills, and speech and/or language skills

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Essentials of Diagnosis

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  • Abnormality of chromosome 5 with deletion of short arm

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General Considerations

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  • Associated disorders
    • Scoliosis3
    • Diastasis rectii4
    • Cataracts
    • Abnormalities in organs3

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Demographics

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  • 1 in 20,000-50,000 births5
  • More common in females than males6

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Signs and Symptoms

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  • High pitched, cat-like cry
  • Feeding difficulties6
  • Hypotonia3
  • Microcephaly3
  • Micrognathia3
  • Failure to thrive4
  • Delays in
    • Gross motor skills
    • Oral motor skills7
    • Speech and/or language skills7
  • Cognitive/Intellectual disability
  • Stereotypic movements6
  • Behavioral issues6
  • Hyperacusis6

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Functional Implications

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  • Poor head control as infant
  • Poor trunk control; delay in sitting independently
  • Late walking
  • Cognitive impairment3
  • 50% are hyperactive3

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Possible Contributing Causes

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  • Defect in either the egg or sperm1

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Differential Diagnosis

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  • Patau syndrome6
  • Wolf-Hischhorn syndrome6

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Laboratory Tests

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  • DNA analysis3

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Imaging

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  • Skeletal radiographs for microcephaly and short metacarpals6
  • MRI to assess for atrophy6
  • Echocardiography to rule out cardiac defects6
  • Barium swallow study6

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  • Organ anomalies
    • Ventricular septal defect8

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  • Geneticist
  • Ophthalmologist for possible cataracts
  • Orthopedics for possible scoliosis or pes planus
  • Neurology
  • Occupational therapy
  • Speech therapy

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  • Decreased strength
  • Poor head control
  • Poor trunk control

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  • Behavior modification
  • Developmental activities
    • Facilitation of normal movement patterns
    • Acquisition of motor milestones through facilitation
  • Therapeutic exercise
    • Strengthening
    • Balance training
    • Coordination tasks
  • Recommendations for adaptive equipment as needed

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  • Sustain prone on elbows with 45° cervical extension for 30 to 60 seconds independently within 3 months
  • Brings hands to midline to reach for a toy when in supine within 1 month
  • Sits for 15 to 30 seconds while propping with hands on the floor within 6 months
  • Creep on hands and knees with minimal assistance for ...

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