Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth.
Q. Can Williams syndrome be passed on?
Is Williams syndrome inherited? Most cases of Williams syndrome are not inherited. The condition typically occurs due to random events during the formation egg or sperm cells in a parent. Therefore, it most often occurs in people with no family history of Williams syndrome.
Table of Contents
- Q. Can Williams syndrome be passed on?
- Q. Who is at risk for Williams syndrome?
- Q. Why would someone get tested for Williams syndrome?
- Q. Can Williams syndrome be prevented?
- Q. How does Williams syndrome affect learning?
- Q. What is Grayson’s syndrome?
- Q. What is Harlequin syndrome?
- Q. What does Harlequin Syndrome look like?
Q. Who is at risk for Williams syndrome?
Williams syndrome is a rare disorder that affects males and females in equal numbers and infants of any race may be affected. The prevalence of this disorder is approximately one in 10,000-20,000 births in the United States.
Q. Why would someone get tested for Williams syndrome?
A through investigation of the child’s blood vessels, often with an echocardiogram (similar to the ultrasound used to look at a baby during pregnancy) and an EKG. A DNA test to check for the missing genes because Williams syndrome is caused by 26-28 missing genes in a small region on one of the child’s chromosomes.
Q. Can Williams syndrome be prevented?
There is no known way to prevent Williams syndrome. People with a family history of the condition can choose to undergo genetic counseling before conceiving a child.
Q. How does Williams syndrome affect learning?
Williams syndrome and learning disability Williams syndrome affects everyone in different ways, but many people will have a learning disability. A child’s development will be delayed if they have Williams syndrome, which means they may take longer to learn how to walk, talk, and develop other social skills.
Q. What is Grayson’s syndrome?
Grayson-Wilbrandt syndrome is an extremely rare form of corneal dystrophy. Corneal dystrophies are a group of genetic disorders. They affect the cornea, which is the clear outer layer of the eye.
Q. What is Harlequin syndrome?
Harlequin syndrome is a syndrome affecting the autonomic nervous system. The autonomic nervous system is responsible for controlling the body’s natural processes such as sweating, skin flushing, and the response of the pupils to stimuli.
Q. What does Harlequin Syndrome look like?
Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs.
