The results came back saying he had Smith-Magenis Syndrome (SMS).
Above, Poppy Blewett-Silcock, from Caerphilly, who has Warburg Micro Syndrome and right, Louis Mushrow who has Smith-Magenis Syndrome
So proud: Grace Riddell from Castle Vale who suffers from a rare condition called Smith-Magenis Syndrome
, with mum Emma, dad Mark and brothers Harry and Charlie.
Cash raised will go to Laura Stock, a six year-old from Hinckley, Leicestershire, who suffers from the rare Smith-Magenis Syndrome
R Our 15 year old daughter, who has Smith-Magenis syndrome
and chronic intestinal pseudo-obstruction, has had in-home caregiver-friends for the past five years.
She is a member of the Professional Advisory Board for Smith-Magenis Syndrome
, serves on the Information and Education Committee of the American Society of Human Genetics, and has served on the Board of Directors for the March of Dimes.
Megan McKim, eight, suffers from rare Smith-Magenis Syndrome
, which causes learning and behaviour difficulties.
Recently, a friend of mine who is a nurse at a genetics clinic in a different city mentioned Smith-Magenis syndrome
as a possible diagnosis for my daughter.
PRISMS: Parents & Researchers Interested in Smith-Magenis Syndrome
11875 Fawn Ridge Ln Reston, VA 22094 (703) 709-0568 [envelop] acmsmith@nchgr.
One technology is chromosomal microarray analysis, which has opened the possibility of detecting a wide range of disease-causing copy-number variants (CNVs), such as those causing DiGeorge, Williams, and Smith-Magenis syndromes