Showing 1-10 of 26 results

  1. Cleft palate and cleft lip

    20 Oct 2019

    Most cleft palates and cleft lips can be repaired so that appearance and speech develop normally...

  2. Tay-Sachs disease

    08 Oct 2019

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

  3. Thalassaemia

    06 Oct 2019

    Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated...

  4. Trisomy disorders

    01 Oct 2019

    Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities...

  5. Central nervous system birth defects

    25 Sep 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...

  6. Digestive tract birth defects

    24 Sep 2019

    Too much amniotic fluid surrounding the baby during pregnancy (polyhydramnios) may indicate the presence of defects of the digestive tract...

  7. Williams syndrome

    20 Sep 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...

  8. Noonan syndrome

    20 Sep 2019

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

  9. Phenylketonuria (PKU)

    17 Sep 2019

    PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods...

  10. Kabuki syndrome

    30 Aug 2019

    Kabuki syndrome affects males and females equally and there is no cure...