n South African Journal of Child Health - Achondroplasia Day 2012 in Johannesburg : short report

Volume 6, Issue 2
  • ISSN : 1994-3032
  • E-ISSN: 1999-7671



The Division of Human Genetics (National Health Laboratory Service and University of the Witwatersrand) recently hosted the second annual Achondroplasia Day in Johannesburg. Participation in the meeting increased from 4 families in 2011 to 17 families in 2012. The main aim of the meeting was to bring individuals with achondroplasia and their families together and to facilitate improved interaction between families and the healthcare professionals involved in their care. This short report briefly describes the events of the day, and the immense benefit such activities have for families with rare genetic conditions. Additionally, we provide an overview of the basic genetics of achondroplasia and specific health needs of affected individuals. It is hoped that other centres around South Africa will be inspired to organise similar events in their respective areas to benefit their patients.

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