Who Has Williams Syndrome?

What is Williams syndrome caused by?

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7.

The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder..

Is Williams Syndrome Real?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.

Is Williams syndrome a form of autism?

Chris has Williams Syndrome (WS), a rare genetic disorder affecting around one in 18,000 people in Britain. It has often been dubbed the ‘opposite of autism’. People with WS are empathetic, social, friendly and endearing but they tend to have a low IQ, making tasks such as counting money difficult.

Is Williams syndrome similar to Down syndrome?

Williams syndrome is characterised by poor visuo-spatial abilities alongside relatively preserved language skills, whereas Down’s syndrome is characterised by lower language skills alongside less impaired visuo-spatial skills (e.g. Mervis and John, 2012).

At what age is Williams Syndrome 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.

Does Williams syndrome make you happy?

Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness.

What is an elfin face?

Elfin facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips.

What is the life expectancy of someone with Williams syndrome?

Some people with Williams syndrome may have a reduced life expectancy due to complications of the disease (such as cardiovascular involvement). No studies specifically exist on life expectancy, although individuals have been reported to live into their 60s.

What are the symptoms of Williams syndrome?

Common features of Williams syndrome include:Heart and blood vessel problems. … Hypercalcemia (elevated blood calcium levels) … Low birth-weight / slow weight gain. … Feeding difficulty (generally limited to the early years) … Irritability (colic during infancy) … Dental abnormalities. … Kidney abnormalities. … Hernias.More items…

Can you have mild Williams syndrome?

Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. People with Williams syndrome (WS) often an unusual “elfin” appearance, with a low nasal bridge.

Does Williams syndrome run in families?

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.

What is Grayson’s syndrome?

‘ Doctors discovered Grayson had seven bone deformities, a huge gap in his skull, a hole in his heart, apnoea, and was unable to see or hear. Although his eyes and ears started to work as he grew older, most of the conditions he has are degenerative and get worse as he grows up.