Our son Salvador has Phelan-McDermid syndrome. He is missing genes on his 22nd chromosome — this is also known as 22q13 Deletion Syndrome (spoken as twenty two q one three). The Phelan-McDermid Syndrome  microdeletion found in our son is rarely uncovered by typical genetic screening, therefore a fluorescence in situ hybridization, or FISH, test is recommended to confirm the diagnosis.

Recent work indicates Phelan-McDermid Syndrome may also be caused by errors in a single gene (SHANK3/PROSAP2) in the q13.3 region. Errors on the same gene have been associated with Autism Spectrum Disorder (ASD).

PMS is characterized by general hypotonia, absent to delayed speech, and global developmental delays. There are approximately 600 reported cases of Phelan-McDermid Syndrome worldwide.

Although Salvador looks normal in the outside, there is a lot going on in the inside. PMS does not allow him to speak but it does allow him to be the sweetest thing on the world. He may be one in 10 million but to us he is number 1!

5 thoughts on “Salvador Has Phelan-McDermid Syndrome – Also Known as PMS or Twenty Two Q One Three”

  1. Brenda Aponte says:

    i have a 16th years old baby boy with this Syndome. How i can contact other parents or other histories like this. I dont have much information and we needed. Plese somebody contact me.

  2. We are working on finding information for you. Please check your e-mail and/or this post for a response! Kudos to you for reaching out and hang in there!

    – The Global Genes Team

  3. Mary says:

    Brenda, have you tried contacting the Phelan-McDermid Syndrome Foundation? Their website is http://www.pmsf.org. Contact information and lots of other information is available there. Membership is FREE to any family who has a child with Phelan-McDermid Syndrome. There is also a Phelan-McDermid Syndrome Foundation Facebook group, a very active family support Facebook group(called 22q13 Families – Phelan-McDermid Syndrome Family Support Group), and a Yahoo group (https://health.groups.yahoo.com/group/22q13/join). There is lots of support available for your and your family!

  4. I am a Regional Rep for the P-MS Foundation. You can find all the info you need on the website. http://www.pmsf.org. https://22q13.org/j15/index.php?option=com_qcontacts&view=category&catid=66&Itemid=130 This link it to contact your Regional Rep. It helps to register with the foundation to get the most up to date information. https://22q13.org/j15/index.php?option=com_content&view=article&id=150&Itemid=127 This link is for membership. You also have a wonderful support group on Facebook. This group is EXTREMELY active and someone is always willing to help out with advice or virtual hugs! https://www.facebook.com/groups/22Q13PMS/ This is the link for the Facebook group. Please let me know if you need anymore information.

  5. Cynthia – this is FABULOUS information. Thank you so much for reaching out! Have a GREAT day!

    – The Global Genes Team

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