SAIDA - The South African Inherited Disorders Association

Down syndrome is a chromosomal disorder. The most common or classical type of Down syndrome results from the presence of an additional chromosome number 21 in all the cells of the body (normal cells have two copies, one from each parent). Another name for Down Syndrome is therefore Trisomy 21, meaning "three copies of chromosome number 21". Older women are at a higher risk of having a child with Down syndrome. When a woman is pregnant and over the age of 35 years, examinations can be offered by her obstetrician to test for the condition in the fetus. Nevertheless, more than 80% of children with Down syndrome are currently being born to mothers under the age of 35. Down syndrome occurs in 1 in 600 to 1000 children.

A small proportion (about 5%) of Down syndrome cases arise by other chromosomal mechanisms which may lead to a higher risk of another baby being similarly affected. These situations should be discussed with your doctor.

Children with Down syndrome have a variety of features. The majority of affected persons fall in the mild to moderate range of intellectual disability. Heart defects at birth occur in 40-50% of people with Down syndrome and 8-12% may also have intestinal abnormalities. Some of these defects are correctable by surgery. Hearing may be partially affected in up to 65% of people with Down syndrome and it is advisable for children to have regular hearing tests. Epicanthal folds (small skin folds on the inner corner of the eyes), muscle weakness and proneness to infection are also common characteristics.

The Down Syndrome Association of South Africa (DSSA) is a non-profit organization of families and interested persons working to improve the quality of life for those with Down syndrome. Their goals are: to provide emotional support to parents of children with Down syndrome; to empower parents and families by keeping them informed on the latest developments in the field of Down syndrome so that they are able to make informed choices; to inform parents that, given the right kind of early help and education, the achievements of many children with Down syndrome far exceed what was previously thought possible; to educate society and to promote public awareness regarding Down syndrome; to promote the principles of normalization so that persons with Down syndrome can be included in all walks of life and can grow up to be valued and dignified citizens; to be involved at the highest levels in policy making in all areas concerning the intellectually disabled; to encourage and promote research in all aspects of Down syndrome and to disseminate the research findings to all health professionals. DSSA will support any effort to include children with Down syndrome into regular community schools.

For more information please contact the Down Syndrome Association at 27-11-615-9401 and 0861-369-672 (DOWNSA).

Down Syndrome South Africa - National Office

P.O Box 1563
BEDFORDVIEW
2008
Tel: 0861-DOWNSA (369672)
Fax: 011-615-9406
Email: dssaoffice@icon.co.za
Website: http://www.downsyndrome.org.za

Down Syndrome Association - Gauteng

The Memorial Institute
4th Floor
P O Box 1991
Houghton 2041
Tel: (011) 484-6116
Fax: (011) 803 1321
Email: dsag@mweb.co.za

Down Syndrome Association - Border Kei

P O Box 8030
Nahoon
East London
5241
Tel: 043-743 6626
Email: bprdavis@mweb.co.za

Down Syndrome Association - Nelson Mandela Metropole (Port Elizabeth)

51 Murrell Cresent
Framesby
Port Elizabeth
Tel/fax: (041) 360 6565
Email: skorbs@mweb.co.za

Down Syndrome Association - KwaZulu Natal

P O Box 28307
Malvern
Durban
4055
Tel: 031-464 2055
Email: downskzn@iafrica.com

Down Syndrome Association - Western Cape

73 van der Stel Street
Oakdale
Belville
7530
Tel: 021 949 0090
Fax: 021 949 3860
Email: downwc@iafrica.com

Down Syndrome Support Cape

Red Cross Children's Hospital
Section S8
Out Patient Dept.
Klipfontein Road
Rondebosch
7700
Tel: 021-689 1519
Email: vhoy@ich.uct.ac.za

Down Syndrome Association - Pretoria/Tshwane

P O Box 16677
Lyttelton
0140
Tel: 012 664 8874
Fax: 012-664 8349
Email: marinda@downs.org.za

Down Syndrome Association - Free State

Health Science Building
Paediatrics Dept.
University of the Free State
Tel: 051-821 1712 - Hermien
Tel: 051-447 3512 - Dorothy
Email: hermien.jooste@telkomsa.net

Down Syndrome Support Group - Witbank

Witbank Hospital
Alice Mtetwa
Tel: (013) 653 2176
Fax: (013) 6561316

The International Birth Defects Information Systems (I.B.I.S) The International Birth Defects Information Systems (I.B.I.S) is a multi-lingual website dedicated to promote better care, wellbeing and prevention of malformation and developmental disorders through information sharing. IBIS Appeal IBIS Newsletter

Medical Genetic and Counselling Services Genetic counselling is a process whereby patients and their families are assisted in addressing their concerns relating to the development or transmission of a genetic disorder. Medical diagnosis, prognosis, the genetics and recurrence risks of the presenting disorder, together with providing families with options to deal with their risks and manage the disorder in the best possible way, are the primary aims of our genetic counselling service. The multidisciplinary team consists of medical geneticists, medical officers, genetic counsellors and students in training. To find out more about genetic counselling, click here. To find out more about genetic counselling clinics, please contact Mrs Zain Jakoet on the following. Tel: (011) 489-9224 Fax: (011) 489-9224

The Department of Human Genetics, University of the Witwatersrand The department of Human Genetics at the University of the Witwatersrand has published information on the commoner genetic disorders in South Africa. Please click here for more information.

The South African Society for Human Genetics The Southern African Society for Human Genetics (SASHG) is a non-profit organization for health care professionals involved and interested in Human or Medical Genetics. Please click here for more information.