SAIDA - The South African Inherited Disorders Association

The neurofibromatoses(NF) are a group of inherited disorders of the nervous system. Presently, two distinct forms of the disorder are known: NF1 and NF2.

NF1 is also known as Von Recklinghausen disease. It is one of the most common, and also most serious, genetically determined neurological disorders. NF2 is also called bilateral acoustic neurofibromatosis (BANF) because it affects the nerves related to hearing. About 1 in every 3500 individuals in South Africa has NF1. NF2 is less common and occurs in about every 50 000 births. Both forms of NF occur in all ethnic groups throughout the world and males and females are equally affected.

A common early sign of NF1 is the presence of six or more large, tan coloured spots on the skin. They are called cafe-au-lait, spots. Some of these spots are often present at birth or develop soon thereafter. They may increase in size and number with age and may also become darker. Small benign tumours under the skin, or deeper, may appear at any age, but are especially common during adolescence and pregnancy. The tumours, which grow on nerves, are made up of nerve cells and other cell types, and are called neurofibromas. NF2 is characterized by tumours that grow on the auditory nerves, often resulting in hearing loss.

NF1 and NF2 are caused by two separate abnormal genes. Since NF follows a dominant mode of inheritance, each child of a parent with NF1 or NF2 has a 50% chance of inheriting the NF gene from that parent. About 50% of NF1 cases are caused by a new mutation. An individual with NF1 caused by a new mutation will have the same variety of symptoms as a person who inherited it from an affected parent.

The South African Neurofibromatosis Association (SANFA) was set up in 1991, under the auspices of SAIDA. SANFA is a support group for adults affected with NF and for the parents of affected children, as well as for the many families and friends of affected individuals and any other interested persons including health professionals and teachers. For further information contact SANFA in Johannesburg.

SA Neurofibromatosis Association

P.O Box 18
Wits
2050
Tel: (011) 716-4071
Fax: (011) 339-1502
E-mail: 183man@muse.arts.wits.ac.za

 

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.