Sadia khan biography of williams syndrome

According to Williams Syndrome Foundation , Williams syndrome affects around 1 in every 18, people in the United Kingdom, which makes it rare. This is a congenital and non-hereditary disorder that is characterised by a range of learning difficulties and distinctive facial features. Also called Williams-Beuren syndrome, Williams syndrome is a neurodevelopmental condition caused by a microdeletion in chromosome 7.

Individuals with the condition can have a range of symptoms, which include developmental delays , cardiovascular abnormalities, and cognitive challenges. Generally, children have poor growth, which causes shorter than average stature in adulthood. There can also be endocrine issues like early puberty, too much calcium in the urine and blood, and an underactive thyroid.

Those with Williams syndrome WS are often highly sociable and friendly. Males and females are affected equally and it occurs worldwide in all cultures. Williams syndrome affects 1 in 18, people randomly. Males and females are affected equally by Williams syndrome and it also occurs in individuals of all ethnic backgrounds. If there is a concern about Williams syndrome if a parent already has a child with the condition, for example , then prenatal testing can be carried out in future pregnancies.

Tests like amniocentesis or chorionic villus sampling CVS can diagnose Williams syndrome in utero. The human body has 46 chromosomes, which are arranged in pairs.

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One copy of each chromosome pair comes from the mother, the other from the father. Inside these are genetic information—parts of DNA called genes. These are like an instruction manual that tell the body how to develop and function.