Showing 1-10 of 63 results

  1. Fragile X syndrome

    03 Dec 2018

    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...

  2. Prader-Willi syndrome

    13 Nov 2018

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

  3. Kennedy's disease

    09 Nov 2018

    Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs...

  4. Congenital adrenal hyperplasia (CAH)

    01 Nov 2018

    CAH is a rare genetic disorder, but it is well understood and treatment is readily available...

  5. Ambiguous genitalia

    01 Nov 2018

    The causes of ambiguous genitalia include genetic variations, hormonal imbalances and malformations of the fetal tissues that are supposed to evolve into genitals...

  6. Cystic fibrosis (CF)

    29 Oct 2018

    When a person has cystic fibrosis, their mucus glands secrete very thick sticky mucus that clogs the tiny air passages in the lungs and traps bacteria...

  7. Spinal muscular atrophy (SMA)

    03 Sep 2018

    A child with spinal muscular atrophy type 1 rarely lives beyond three years of age...

  8. Genes and genetics explained

    03 Sep 2018

    Children inherit physical characteristics such as eye colour from their parents through their genes...

  9. McCune-Albright syndrome

    22 Aug 2018

    The severity of symptoms or how a child with McCune-Albright syndrome will be affected throughout life is difficult to predict...

  10. Newborn bloodspot screening

    15 Aug 2018

    Every newborn baby in Australia is offered a newborn bloodspot screening test to identify those at risk of rare, but serious, medical conditions...