Chromosomal Disorders

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DSSA also provides support to people in South Australia living with other chromosomal disorders. The most common chromosomal disorders we work with are outlined below.

Williams syndrome

Williams syndrome is a genetic disorder caused by a deletion of a series of genes on chromosome 7q11. Individuals with Williams syndrome have distinctive facial features, a range of learning difficulties, heart and blood vessel problems, short stature, unique personality traits and distinct learning abilities and deficits.

Find out more at the Williams Syndrome Association of South Australia website.

Fragile X

Fragile X syndrome (FXS) is an inherited genetic condition causing intellectual disability, behavioural and learning challenges, as well as various physical characteristics. It is also the most common single gene cause of autism worldwide. It is present in people from all ethnic, racial and socioeconomic backgrounds.

Find out more at the Fragile X Association of Australia website.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is genetic condition that affects boys and girls equally and continues to affect them throughout their lives. People with Prader-Willi syndrome develop an obsession with food and eating (some from about age two), low muscle tone, small hands and feet which affect balance, learning difficulties, lack of normal sexual development, emotional instability and intellectual disability.

Find out more at the Prader-Willi Syndrome Association website.

Cornelia de Lange syndrome (CdLS)

CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognised at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.

Find out more at the Cornelia de Lange Syndrome website.

Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a genetic condition which affects many parts of the body. Smith-Magenis syndrome isn’t usually inherited and it’s rare, affecting an estimated one in 25,000 people.

Find out more at the following website.

Sotos syndrome

Sotos syndrome is a genetic condition causing physical overgrowth during the first years of life. Children with Sotos syndrome are often taller, heavier, and have larger heads than their peers. Because of the distinctive head shape and size, Sotos syndrome is sometimes called cerebral gigantism.

Find out more at the following website.