Showing 1-10 of 36 results

  1. Rett syndrome

    12 Nov 2019

    People with Rett syndrome have a keen desire to communicate...

  2. Williams syndrome

    12 Nov 2019

    Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life...

  3. Tay-Sachs disease

    12 Nov 2019

    Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians...

  4. Prader-Willi syndrome

    12 Nov 2019

    A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity...

  5. Noonan syndrome

    12 Nov 2019

    Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features...

  6. Haemophilia

    12 Nov 2019

    All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed...

  7. Fragile X syndrome

    12 Nov 2019

    The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic...

  8. Dwarfism

    12 Nov 2019

    Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth...

  9. Down syndrome

    12 Nov 2019

    With the support and opportunities available to them today, most people with Down syndrome are able to achieve and participate as valued members of their community...

  10. Cri du chat syndrome

    12 Nov 2019

    Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems...