Showing 1-10 of 36 results

  1. Prader-Willi syndrome

    06 Jun 2020

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

  2. Tay-Sachs disease

    22 May 2020

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

  3. Birth defects explained

    26 Apr 2020

    The cause of birth defects is often unknown, speak to your GP if you are at increased risk of having a baby with a congenital anomaly...

  4. Rett syndrome

    12 Nov 2019

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

  5. 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...

  6. Noonan syndrome

    12 Nov 2019

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

  7. Haemophilia

    12 Nov 2019

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

  8. 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...

  9. Dwarfism

    12 Nov 2019

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

  10. 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...