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Monday, 13 February 2012
Page: 958

Dr SOUTHCOTT (Boothby) (22:20): I would like to draw to the attention of the House a very important matter that was brought to my attention by a resident of Boothby, Mr Raymond Tanner. Mr Tanner asked that I bring the issue of velo-cardio-facial syndrome to the attention of the parliament. I do so because I suspect that most people in this House would be unaware of this syndrome.

Velo-cardio-facial syndrome is the second most common genetic disorder after Down Syndrome, and affects one in every 2,000 people. The name velo-cardio-facial syndrome comes from the Latin words velum, meaning palate; cardio, meaning heart; and facies, having to do with the face. Velo-cardio-facial syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. It was first identified by Robert Shprintzen in 1978.

Because the syndrome has only been recently identified, in relative terms, many adults may not even realise that they could have VCFS. The syndrome is caused by the deletion of a small segment of their chromosome 22 at the q11 region. The cause of this deletion is not known. More distressingly, a person diagnosed with VCFS has a 50 per cent chance of passing the syndrome on to their children. Those affected may have one or all of more than 180 unique anomalies, including palatal abnormalities, in 69 per cent; heart defects, in 74 per cent; absent or malformed kidneys; learning difficulties; intellectual disability; hearing loss; adult psychiatric disorders; and dysfunctional immune systems. These anomalies can cover nearly every organ system in the body with broad-reaching effects on development and behaviour, including on speech, language, personality, mood, learning, attention, and temperament. Those diagnosed with VCFS may also suffer facial abnormalities.

The lack of knowledge of VCFS is frustrating for those suffering from it and for the parents of diagnosed children. Quite often, these people feel that they know more about the issue than the doctors that they see. As I mentioned earlier, this is still a relatively unknown condition and many doctors are still unaware of it. As it is the second-most common syndrome we need to ensure that doctors are better informed of this issue. I would like to thank Mr Tanner for contacting me, and raising his concerns with me. I would also urge the Minister for Health and Ageing and the Parliamentary Secretary for Health and Ageing, who is sitting at the table, and other members of this House to take an interest in velo-cardio-facial syndrome.

People can get more information on VCFS at the VCFS Educational Foundation web site at or at the VCFS 22q11 Foundation web site at Both organisations provide help, support and information for individuals, or families who may be suffering from or supporting a family member with VCFS. I encourage anyone interested to contact them for more information.