Williams+Syndrome

Causes: Williams Syndrome is the deletion of #7 chromosome (codes for elastin). Its autosomal.

Pattern of Inheritance: Autosomal Dominant, most cases are not inherited, but occur as random.

Characteristics of the Disorder: Occurs in 1 in 7,500 - 8,000 births. It is also known as Williams- Beuren Syndrome and Williams Syndrome. It happens during the formation of reproductive cells in the parent of the affected individual.

Content of Characteristics: People who have Williams Syndrome have mild to moderate mental retardation, ADD, a sunken chest, ( pectus excavatum), feeding problems, learning disorders and an unusual appearance. Most people who have this disorder will not live as long as they normally would without it. 75% have some form of mental retardation. Also most of these people have a full-time caregiver and live in supervised group homes.



Prevention: Williams Syndrome cannot be prevented. Parents can get genetic screening for this genetic disorder if they decide to have children and that is currently the only real way to prevent Williams Syndrome.

Testing: Williams Syndrome can be tested for by multiple ways. A Blood pressure check, blood test for the missing chromosome (FISH), a kidney ultrasound and an Echocardiography combined with a Doppler ultrasound.