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Cymorth

Genetic disorders

Genetic disorders are conditions or diseases which can be caused by problems with defective genes or chromosomes, the building blocks of all humans and animals. They can be passed on from generation to generation, but can also be the result of environmental factors. Some of the most common diseases and conditions, such as heart disease or cancers also have quite strong genetic causes, often triggered by lifestyle factors.

The range of conditions that can be defined as congenital genetic disorders can vary enormously, from the relatively harmless such as colour blindness, to more serious conditions such as Down's Syndrome or cystic fibrosis. Increasingly, mental illness such as bipolar disorder is also thought to have a genetic link.

Useful contacts

    Antenatal Screening Wales

    Funded by the Welsh Assembly, this service aims to give a high standard of screening test to women. They offer a range of test so that you can discuss options with your midwife or GP.

    NHS Direct Wales

    NHS Direct Wales is a 24 hour helpline, which can give advice about health and health services across Wales. It is staffed by experienced nurses specially trained to give advice over the phone and provide information about all your local services.

    Patient.co.uk

    Extensive, good quality health information usually provided by GPs and nurses during consultation.

    Cystic Fibrosis Trust

    One of the main UK organsiations there to help those living with cystic fibrosis, their families or carers. They offer all kinds of practical advice and support on everything about this condition through the website and helpline. They also have expert patient advisers in different parts of the the UK - including Wales - so that people can be helped to find the best possible care.

    S.O.F.T.

    If your baby is affected by Edward's Syndrome, a chromosmal disorder, you can get support from this organisation.

    Contact a Family Wales

    This organisation provides support, advice and information for families with disabled children.

    • Telephone: 0808 808 3555 (10am-4pm, Monday-Friday)
    • Textphone: 0808 808 3556
    • Visit website