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Condition/Disorder Synonyms

  • 5p-

  • Deletion of 5p

  • Chromosome 5p deletion syndrome

  • 5p minus deletion syndrome1

  • Cat cry syndrome1

ICD-9-CM Code

  • 758.31 Cri-du-chat syndrome

ICD-10-CM Code

  • Q93.4 Deletion of short arm of chromosome 5

Preferred Practice Pattern

Key Features

Description

  • 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

Essentials of Diagnosis

  • Abnormality of chromosome 5 with deletion of short arm

General Considerations

  • Associated disorders

    • Scoliosis3

    • Diastasis rectii4

    • Cataracts

    • Abnormalities in organs3

Demographics

  • 1 in 20,000-50,000 births5

  • More common in females than males6

Clinical Findings

Signs and Symptoms

  • 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

Functional Implications

  • Poor head control as infant

  • Poor trunk control; delay in sitting independently

  • Late walking

  • Cognitive impairment3

  • 50% are hyperactive3

Possible Contributing Causes

  • Defect in either the egg or sperm1

Differential Diagnosis

  • Patau syndrome6

  • Wolf-Hischhorn syndrome6

Means of Confirmation or Diagnosis

Laboratory Tests

  • DNA analysis3

Imaging

  • Skeletal radiographs for microcephaly and short metacarpals6

  • MRI to assess for atrophy6

  • Echocardiography to rule out cardiac defects6

  • Barium swallow study6

Findings and Interpretation

  • Organ anomalies

    • Ventricular septal defect8

Referrals/Admittance

  • Geneticist

  • Ophthalmologist for possible cataracts

  • Orthopedics for possible scoliosis or pes planus

  • Neurology

  • Occupational therapy

  • Speech therapy

Impairments

  • Decreased strength

  • Poor head control

  • Poor trunk control

Tests and Measures

Intervention

  • Behavior modification

  • Developmental activities

    • Facilitation of normal movement patterns

    • Acquisition of motor milestones ...

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