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Search results for genetic disorder

  • Spina bifida - Causes

    Read about the risk factors for spina bifida. The exact cause is unknown, but a lack of folic acid before and during pregnancy is a significant risk factor.

  • Nail patella syndrome

    Nail patella syndrome is a rare genetic condition that can involve problems with the nails, bones, kidneys and eyes. It's thought to affect about 1 in 50,000 people.

  • Prader-Willi syndrome - Causes

    Read about the cause of Prader-Willi syndrome (PWS). It's a genetic condition that's the result of a change on chromosome number 15.

  • Prader-Willi syndrome

    Find out about Prader-Willi syndrome (PWS), which is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural challenges.

  • MCADD

    MCADD is a rare genetic condition where a person has problems breaking down fat for energy. Read about the symptoms, causes and outlook.

  • Androgen insensitivity syndrome - Causes

    The genetic alteration that causes androgen insensitivity syndrome means the body cannot respond to testosterone properly.

  • Hereditary spastic paraplegia

    Find out about hereditary spastic paraplegia (HSP), a rare group of inherited disorders that often cause weakness and stiffness in the leg muscles, which gradually gets worse over time.

  • Prader-Willi syndrome - Diagnosis

    Find out how Prader-Willi (PWS) syndrome is diagnosed. It can usually be diagnosed using a series of genetic tests.

  • Marfan syndrome - Diagnosis

    Find out how Marfan syndrome is diagnosed. A diagnosis is usually based on a physical examination and assessment of medical and family history.

  • Antiphospholipid syndrome (APS) - Causes

    Antiphospholipid syndrome (APS) is caused by the body’s immune system producing abnormal antibodies called antiphospholipid antibodies.