Phelan-McDermid Syndrome -- also known as 22q13 Deletion Syndrome -- is caused by the absence / loss of genes at the tip of the 22nd chromosome, with lack of the Shank3 / ProSAP2 gene suspected as the primary cause of the symptoms associated with the syndrome. This gene plays a pivotal role in development of the human nervous system, including the brain, and loss of this genetic component prevents proper nervous system construction during fetal development. There is a wide range of severity of symptoms observed in people with the deletion, but most exhibit moderate to severe developmental delays, physically and intellectually, but especially in speaking and communicating. Very low muscle tone is a common trait of the syndrome, and many have problems with eating, sleeping and emotional stability. There are currently just over 450 members in our database worldwide (as of September 2009), this number includes children and adults. The large majority of these cases are small children due to the recent (1998) development of a reliable test called the Fluorescence In Situ Hybridization Test (aka, FISH) for the deletion. The actual number of people with the deletion is certainly much larger. Outreach to find and help these families with older children is one of the objectives of the support group.
I am a mother of two children, one of which has been diagnosed with Phelan-McDermid Syndrome. I am looking to talk with other parents who have a child (or children) with this...
Started by Jennifer on 04/12/2012 in Phelan - McDermid Syndrome (PMS)
Last update on 04/17/2013 by Sue
I am so excited to have stumbled across this community of parents that might be able to help me with my son. A couple months ago my sons neurologist suggested that he might have...
Started by Marta on 09/03/2010 in Phelan - McDermid Syndrome (PMS)
Last update on 09/28/2012 by Patricia