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235: CRI-DU-CHAT SYNDROME

Kay Tasso, PhD, PT, PCS

CONDITION/DISORDER SYNONYMS

  • 5p minus

  • Deletion of 5p-

  • Chromosome 5p deletion syndrome

  • 5p minus deletion syndrome1

  • Cat’s 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

  • 5C: Impaired Motor Function and Sensory Integrity Associated with Nonprogressive Disorders of the Central Nervous System—Congenital Origin or Acquired in Infancy or Childhood 2

PATIENT PRESENTATION

A 3-month-old infant has been referred to physical therapy with a history of atypical facial features and microcephaly. The mother reports no difficulties during pregnancy or delivery. She states the baby has difficulty feeding and has an unusual cry that sounds like a cat. A genetics consult resulted in a diagnosis of cri-du-chat due to an abnormality in chromosome 5. Upon examination, the physical therapist notes hypotonia primarily in the neck and trunk and the infant is not yet able to achieve prone-on-elbows. An evaluation by the local early intervention program is pending.

KEY FEATURES

Description

  • Genetic disorder: Deletion of terminal chromosome 5p

    • Cry that sounds like a cat (likely due to abnormal shape of 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

    • Major organ abnormalities

    • Diastasis rectii4

    • Cataracts

    • Abnormalities in organs3

FIGURE 235-1

A mismatch during pairing of homologous chromosomes may lead to a deletion in one chromosome and a duplication in the other. (del = deletion; dup = duplication) (From Spong CY, Cunningham FG, Leveno K, Bloom S, Hauth J, Rouse D. Williams Obstetrics. 23rd ed. http://www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

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Demographics

  • 1 in 20,000 to 50,000 births5

  • Females more common than males6

CLINICAL FINDINGS

SIGNS AND SYMPTOMS

  • High-pitched, cat-like cry

  • Moon face

  • Antimongoloid slant of palpebral fissures

  • Feeding difficulties6

  • Hypotonia3

  • Microcephaly3

  • Hypertelorism

  • Epicanthal folds

  • Strabismus

  • 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

Possible Contributing Causes

  • Defect in either the egg or sperm1

Functional Implications

  • Poor head control as infant

  • Poor trunk control so delayed in sitting independently

  • Late walking

  • Cognitive impairment3

  • 50% are hyperactive...

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