Williams syndrome and Down syndrome are both chromosomal disorders affecting people from birth. However, Williams syndrome is caused by a missing chromosome, while Down syndrome is caused by an extra chromosome.
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.
Is Williams syndrome trisomy or monosomy?
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops.
|Specialty||Medical genetics, pediatrics|
Does Williams syndrome make you friendly?
Children with Williams syndrome typically have a personality that is friendly, outgoing, and/or talkative. The appropriate use of language and vocabulary range may be unusually enhanced in some children with this disorder. Mild to moderate mental retardation may occur.
How is Williams syndrome passed on?
Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.
Is Williams syndrome a form of autism?
Autism and Williams syndrome are genetically based neurodevelopmental disorders that present strikingly different social phenotypes. Autism involves fundamental impairments in social reciprocity and communication, whereas people with Williams syndrome are highly sociable and engaging.
Can Williams syndrome be cured?
People with WS require regular cardiovascular monitoring for potential medical problems, such as symptomatic narrowing of the blood vessels, high blood pressure, and heart failure. There is no cure for Williams syndrome, nor is there a standard course of treatment.
What is an elfin face?
Elfin (Elven) 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 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. The transparent cornea has two functions.
What is Williams syndrome 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.
Can people with Williams syndrome marry?
Pober says few people with William’s syndrome marry, and even fewer have children. But this may be changing, Pober says. Now there are new social training programs for people with Williams. These new treatments might ultimately transform the long term prospects of people with Williams.
How old is Alexandra with Williams syndrome?
Victoria Birch and her little sister Alexandra (who is 21 and has Williams syndrome) created this fun YouTube video celebrating their sister bond and spreading some awareness.
What genes are missing in Williams syndrome?
What causes 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.