CRI DU CHAT SYNDROME

ALTERNATE NAMES

5p-Syndrome; Cat's Cry Syndrome; Le Jeune Syndrome;

Chromosome 5p-Syndrome; 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. 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 and partial webbing or fusing of fingers and toes, 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 CODING

Genetic tests can show a partial deletion of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.

ICD-9: 758.31 Cri-du-chat syndrome

ONSET AND 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: Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis. Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

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

Medical Equals