ALTERNATENAMES

Chromosome 18; Complete Trisomy 18 Syndrome; Trisomy 18; Trisomy 18 Complete; Trisomy E Syndrome

DESCRIPTION

Edwards syndrome is a genetic disorder in which a person has an extra third copy (trisomy) of genetic material from chromosome 18, instead of the usual two copies. This chromosomal condition causes severe intellectual disability and congenital abnormalities. It severely affects all organ systems of the body. Children born with Edwards syndrome often have intellectual disability and delayed development, congenital heart disease, seizures, and physical malformations. Associated conditions may include heart defects such as ventricular septal defect and malformations of the digestive tract, urinary tract, and genitals. Due to the presence of several life-threatening medical problems, many infants die within their first month. This disorder is a relatively common syndrome affecting approximately 1 out of 3,000 live births. It is three times more common in girls than boys.

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

Diagnostic testing: The diagnosis of Edwards syndrome is made by genetic testing of the amniotic fluid; ultrasounds of the heart and abdomen; and x-rays of the skeletal system.

Physical findings: Individuals with Edwards syndrome are characterized by:

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  Small head size;

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  Small wide-set eyes;

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  Small lower jaw;

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  Clenched hands with second and fifth fingers on top of the others;

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  Other defects of the hands and feet;

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  Low birth-weight;

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  Crossed legs;

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  Webbed neck;

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  Underdeveloped finger nails; and

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  A shortened breastbone.

ICD-9:758.2

ICD-10: Q91.3

PROGRESSION

Fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.

TREATMENT

Treatment of Edwards syndrome consists of symptomatic and supportive care. Treatment is dependent on the medical condition of the individual and the affected organ defects.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment; and

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  Laboratory tests showing results of chorionic villus sampling (CVS).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Equals