What are the signs and symptoms of Williams syndrome?

What are the signs and symptoms of Williams syndrome?

- Full cheeks. - Large ears. - Prominent lips. - Short stature. - Small jaw. - Upturned nose. - Vertical skin folds that cover the inner corner of the eyes (epicanthal folds). - Wide mouth.

What is Williams syndrome caused by?

Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.

Can Williams syndrome be cured?

There is no specific cure for Williams syndrome, so care is focused on treating specific symptoms or cardiovascular problems. Children with Williams syndrome who have a heart defect may need heart catheterization or surgery to repair the problem, including: ballooning or stenting of blood vessels.

Are there any celebrities with Williams syndrome?

Several famous (or recognizable) people have been diagnosed with Williams syndrome, which include: Amy Kotch, featured in KLRU-TV's public media. Gloria Lenhoff, a soprano singer who has performed with Aerosmith, and the San Diego Master Chorale. Ben (Big Red) Monkaba, a member of the Black Cat community theater.

What parts of the body does Williams syndrome affect?

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing.Sep 8, 2020

How do you know if you have Williams syndrome?

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.

Can you have Williams syndrome without knowing?

Each of the tests is highly reliable (greater than 95%). Many individuals with Williams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possibly progressive medical problems.

What are symptoms of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

Can you prevent Williams syndrome?

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. Talk to your doctor about whether this is right for you. Ask what your chances are of having a child with the condition.

Is Williams syndrome diagnosed at birth?

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.

Are people with Williams syndrome sociable?

Individuals with WS exhibit consistent and unique patterns of social behavior, characterized by an overly friendly, affectionate, engaging, and socially disinhibited personality particularly toward strangers, apparent cross-culturally, and through separable channels of communication, such as eye gaze and language.

Are people with Williams syndrome normal?

Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life expectancy due to complications of the disease (such as cardiovascular problems). Oftentimes, people with Williams syndrome will need additional support as they grow into adults.

Can you have mild Williams syndrome?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.Sep 8, 2020