Cri-du-Chat (5p-) syndrome occurs in about 1 in 50 000 births. The syndrome was given its name due to the distinct high pitched, cat-like cry that affected babies have because of the abnormal development of their larynx. Affected individuals have a deletion in the short arm of chromosome 5 (part of chromosome 5 is missing) so this disorder is also sometimes called 5p- syndrome. Characteristic features of this syndrome include low birth weight and delayed growth, microcephaly (small head), downward and outward slanting eyes spaced widely apart, squints, low set ears, facial asymmetry, cleft lip and palate, heart defects, renal (kidney) abnormalities, hypotonia (floppiness) and mental disability ranging from mild to severe.
A support group for parents with children with the Cri-du-Chat syndrome was established in 1995. Mrs Angela Bravi is the contact person and group coordinator. She has made contact with Cri-du-Chat syndrome support groups in Australia, UK and USA. She encourages people in South Africa and the rest of the world to contact her by mail, phone or fax so she can build up the Cri-du-Chat Syndrome Support Group.
Cri-du-Chat Syndrome Support Group
P.O Box 640
Honeydew
2040
Tel: (011) 795-1647
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.
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Medical Genetic and Counselling Services
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.
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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. |
