Is Williams Syndrome Rare?

Is Williams Syndrome Rare?

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.

What percent of the population has Williams syndrome?

Williams syndrome affects an estimated 1 in 7,500 to 10,000 people.

Is Williams syndrome degenerative?

Williams Syndrome (WS) is a rare genetic non-degenerative disorder, with an estimated prevalence of 1 out of 7500/10,000, and with a potentially chronic clinical outcome [15, 18]. It is a multi-systemic condition caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.

What genes are missing in Williams syndrome?

Williams syndrome is caused by a missing piece ( deletion ) of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes . CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome.

What is the lifespan 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.

Can someone with Williams syndrome get pregnant?

If a parent has Williams syndrome, the possibility of giving birth to a child with WS is 50%, and that does not change for future pregnancies.

What is elfin syndrome?

The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia.

What are the signs of autism in a 3 year old?

Autism symptoms in a 3-year-old

  • doesn’t respond to name.
  • avoids eye contact.
  • prefers playing alone to playing with others.
  • doesn’t share with others, even with guidance.
  • doesn’t understand how to take turns.
  • isn’t interested in interacting or socializing with others.
  • doesn’t like or avoids physical contact with others.

What are the physical characteristics of Williams syndrome?

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.

Do you have a family history of Williams syndrome?

The loss of these genes contributes to the characteristic features. Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome.

Can a child with Williams syndrome have a hoarse voice?

Individuals with this disorder may also have an unusually hoarse voice. Congenital heart defects (CHD) occur in approximately 75 percent of children with Williams syndrome. The most frequent defect is supravalvar aortic stenosis, a condition characterized by the narrowing of the aorta above the aortic valve.

What kind of ear infections does Williams syndrome cause?

Children with Williams syndrome are extremely sensitive to sound and may overreact to unusually loud or high-pitched sounds (hyperacusis). Chronic middle ear infections (otitis media) are often present.