ALTERNATE NAMES

5p- Syndrome; 5p Deletion Syndrome; 5p Minus Syndrome; Cat Cry Syndrome; Cat's Cry Syndrome; CdCS; Chromosome 5p- Syndrome; Le Jeune Syndrome; Monosomy 5p; Chromosome 5p Deletion Syndrome

DESCRIPTION

Cri du Chat syndrome is a hereditary chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a kitten or cat cry. The disorder is characterized by intellectual disability and delayed development, low birth weight, and failure to thrive. There are several distinctive physical features present such as small head, low-set ears, wide-set eyes, small jaw, partial webbing or fusing of fingers and toes, and weak motor skills and muscle tone. Some children with Cri du Chat syndrome are also born with cardiac defects, scoliosis, and cleft palates. Destructive behavior, self-mutilation, and aggression are common.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Cri du Chat is generally made in the hospital at birth. Testing used to make the diagnosis include:

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  Genetic tests showing a partial deletion of chromosome 5p;

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  Florescence in situ hybridization (FISH) analysis showing chromosome deletion; and

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  A skull x-ray revealing an abnormal angle to the base of the skull.

Physical findings: The clinical symptoms of this impairment include:

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  A high-pitched cat-like cry;

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  Intellectual and developmental delays;

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  Distinctive facial features;

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  Small head size (microcephaly);

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  Wide-spaced eyes (hypertelorism);

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  Inguinal hernia;

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  Separation of the muscles in the belly area (diastasis recti);

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  Extra fold of skin over the inner corner of the eye (epicanthal folds);

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  Problems with the folding of the outer ears; and

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  Low birth weight and weak muscle tone (hypotonia) in infancy.

ICD-9: 758.31

ICD-10: Q93.4

PROGRESSION

The outcome varies, but intellectual disability is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

TREATMENT

No specific treatment is available for this condition. The intellectual disability must be addressed, and counseling is recommended for the parents/caregivers.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical examination that describes diagnostic features of the impairment;

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  Developmental assessment or psychological testing to address allegations of mental impairment;

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  X-rays showing skeletal abnormalities; and

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  Results of chromosome testing (karyotyping).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

This condition involves multiple body systems, and is expressly included in listing 110.08 B. A description of clinical findings and laboratory findings will be needed to adjudicate this case.

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