SAIDA - The South African Inherited Disorders Association

Velo-Cardio-Facial Syndrome (VCFS), also known as Shprintzen Syndrome, and sometimes presenting as the Di George Sequence, is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion).

VCFS is characterised by heart abnormalities, palatal problems causing speech difficulties, hearing problems and learning difficulties. Children with VCFS have similar facial characteristics although these are not always noticeable. In addition, there can be immune system deficiencies and psychological problems. In fact, there are over 180 anomalies which can be caused by the deletion. However, none occur with a 100% frequency and some persons may be affected very mildly whilst at the other end of the spectrum others may be severely affected.

More often than not, the problems relating to VCFS are dealt with in isolation. Yet for the successful intervention and handling of VCFS a team approach is essential. Thus there is a need for VCFS to be acknowledged and recognized amongst the medical fraternity, speech therapists, educators and parents. We will therefore be producing a handbook and leaflets in due course.

Should you know of any families affected by the syndrome please feel free to direct them to us. We will be happy to provide further information on request.

Velo-Cardio-Facial Syndrome Support Group of SA

Derek or Val Landau
P.O Box 3273
Glenvista
Johannesburg
2058
Tel (011) 432-1482
Fax as above
Cell 083 470 1998
E-mail delval@mweb.co.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.