EDWARDS SYNDROME

ALTERNATE NAMES

Trisomy 18; Chromosome 18; Trisomy 18 Complete; Complete Trisomy 18 Syndrome; 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 CODING

Genetic testing of the amniotic fluid may be helpful if available in the records. Ultrasounds of the heart and abdomen can detect abnormalities, as can x-rays of the skeletal system.

Physical findings: small head size, small wide-set eyes, small lower jaw, clenched hands with 2^nd and 5^th fingers on top of the others, other defects of the hands and feet, low birth-weight, crossed legs, webbed neck, underdeveloped finger nails, and a shorten breastbone are characteristic features of children diagnosed with Edwards syndrome.

ICD-9: 758.2 Edwards syndrome

ONSET AND 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 is dependent on the medical condition of the individual and the affected organ defects.

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. Laboratory tests showing results of genetic testing (chromosomal analysis).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 A

Medical Equals