How is Williams syndrome diagnosed?
How is Williams syndrome diagnosed?
The diagnosis of Williams syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and specialized blood tests that may detect elevated levels of calcium in the blood.
Is there genetic testing for Williams syndrome?
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. Two different types of testing are available for Willams syndrome. Both tests involve analysis of a small amount of blood from your child.
When is Williams syndrome usually diagnosed?
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. An electrocardiogram (EKG) or ultrasound can check for heart problems.
How do I know if my child has Williams syndrome?
Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.
Can Williams syndrome be detected on microarray?
chromosome microarray testing – a chromosome test that detects Williams syndrome and many other small chromosome changes. fluorescent in situ hybridisation (FISH) chromosome test to check for the deletion of the elastin gene on chromosome 7. FISH testing has mostly been replaced by chromosome microarray.
Can Williams syndrome go undiagnosed?
Diagnosis of Williams syndrome Williams syndrome often goes undiagnosed. This means many people fail to get the support and treatment they need until later in life.
Can Williams syndrome be prevented?
Since Williams syndrome is a genetic condition caused by a chromosome change, not inherited from a parent, there is typically no way to prevent it.
What is Williams syndrome eyes?
WHAT SORT OF EYE PROBLEMS COULD A CHILD HAVE WITH WILLIAMS SYNDROME? Certain ocular findings such as strabismus and amblyopia can be seen in children with Williams Syndrome. The types of strabismus would include infantile esotropia, dissociated vertical deviation, and oblique muscle dysfunction.