Showing 1-10 of 56 results

  1. Huntington's disease

    11 Jul 2019

    The symptoms of Huntington's disease usually, but not always, first appear when the person is approaching middle age...

  2. Treacher Collins syndrome

    11 Jul 2019

    Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss...

  3. Charcot-Marie-Tooth disease (CMT)

    11 Jul 2019

    Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system...

  4. Tuberous sclerosis

    09 Jul 2019

    Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity...

  5. Marfan syndrome

    04 Jul 2019

    Some people may not realise they have Marfan syndrome, because their features are either mild or not obvious...

  6. Kidneys - medullary cystic kidney disease

    28 Jun 2019

    Medullary cystic kidney disease causes the growth of abnormal cysts in the kidneys...

  7. Eczema (atopic dermatitis)

    26 Jun 2019

    Eczema can vary in severity, and symptoms may flare up or subside from day to day...

  8. Central nervous system birth defects

    26 Jun 2019

    Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects...

  9. Dwarfism

    20 Jun 2019

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

  10. Hearing problems in children

    19 Jun 2019

    The earlier that hearing loss is identified in children, the better for the child?s language, learning and overall development...