General Information

The Noonan Syndrome Support Group Website
TNSSG “is intended for people whose lives are touched by Noonan Syndrome, and want to exchange experiences and hopes regarding our children (or us). Associated professionals are also welcome.”  The site has information on Noonan Syndrome, print resources for sale, and directions for joining the group’s ListServs.

"Noonan Syndrome:  What Is It?"
This booklet (available online as a PDF) was published by the UK’s Birth Defects Foundation in February 2006.

Noonan Sydrome Article at eMedicine
This was last updated on 7/24/09.

Noonan Syndrome Article at MedicineNet.com
This was last updated on 5/14/08.

Noonan Sydrome Article at MayoClinic.com
This was last updated 1/8/09.

Noonan Syndrome Article at MedlinePlus Medical Encyclopedia
This was last updated on 8/29/09.

Gene Reviews:  Noonan Syndrome
This was written by Dr. Judith Allanson and last updated 10/7/08.  The "Revision History" at the bottom of the page is helpful in quickly checking out what is new.

Noonan Syndrome at Genetics Home Reference, a service of the U.S. National Library of Medicine
The last comprehensive review of this page was in December 2007.  Click on its links to PTPN11, KRAS, SOS1, and RAF1 links for very clear descriptions of these genes; mutations in them have been identified in most of the people who have Noonan Syndrome. 

Noonan Syndrome: What Physicians Need to Know
You will need to register (it's free) with Medscape to view this 9/27/07 article by Dr. Jacqueline Noonan, Dr. Amy Roberts, and Dr. Jovanna Dahlgren. 

Protein That Enhances Long-term Memory By Controlling Rest Intervals Identified
excerpt:  "Zhong has long been interested in genes that when mutated trigger learning and memory disorders such as Noonan's syndrome, a genetically inherited disease with an incidence rate of 1 in 1000 to 1 in 2000 people. More than 50% of Noonan's patients have mutations in a gene called PTP11, which encodes the SHP-2 phosphatase protein. In contrast to many disease-related mutations that shut off protein production or impair protein activity, these PTP11 mutations do the opposite – they boost the activity levels of SHP-2 phosphatase.

To understand how this change impedes long-term memory, Zhong's team engineered these mutations into a gene in fruit flies called corkscrew that is the functional equivalent of PTP11 in humans. The mutant flies were taught to avoid certain odors via a training regimen of repeated learning sessions broken up by resting intervals lasting 15 minutes. But this training regimen, which induces long-term memory in normal flies, failed to work in the mutants because the increased activity of SHP-2 phosphatase disturbed the spacing effect."

Resources

PTPN11, KRAS, RAF1 and SOS1 Gene Tests for Noonan Syndrome
This is from The Harvard Medical School – Partners Healthcare Center for Genetics and Genomics.

Growth Chart:  Girls with Noonan Syndrome, 0 to 36 months :  from Novo Nordisk which sells growth hormone, "intended for use only by healthcare professionals in the United States"

Growth Chart:  Girls with Noonan Syndrome, 2 to 20:  from Novo Nordisk which sells growth hormone, "intended for use only by healthcare professionals in the United States"

Growth Chart:  Boys with Noonan Syndrome, 0 to 36 months :  from Novo Nordisk which sells growth hormone, "intended for use only by healthcare professionals in the United States"

Growth Chart:  Boys with Noonan Syndrome, 2 to 20;  from Novo Nordisk which sells growth hormone, "intended for use only by healthcare professionals in the United States"

Online Groups

The Noonan Syndrome Support Group Discussion Forum
This is the largest and most active of the online groups.  To join this very supportive group, send an e-mail to listserv@home.ease.lsoft.com with only the following command in the message body: 

subscribe noonan-syndrome
(AOL subscribers also need to type a period “.” in the subject line.)

Once you're a member, you can search the list archives at http://home.ease.lsoft.com/ .

And, this is the social networking place for TNSSG:

 
Visit Your Noonan Connection

These Yahoo groups, associated with www.careplace.com, are not very active at this time: 
        Noonan_Support (one of two Yahoo groups associated with www.careplace.com)
        Noonans_Syndrome (one of two Yahoo groups associated with www.careplace.com)
       

Research

Research on Language Development in Youth with Noonan Syndrome

Noonan Syndrome/PTPN11 Gene Mutation Studies

Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome   NOTE:  This study was terminated due to a patent legal settlement.

Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome  NOTE:  This study is ongoing but not recruiting participants.

Misc.

YouTube video shown at the 2009 Conference:  Genetic Syndromes of the Ras/MAPK Pathway
This short video features photos taken by Rick Guidotti of Positive Exposure, accompanied by the voices of people with Noonan Syndrome and their families.

Heather Nye's Website  Unfortunately, this is currently a broken link.  Hopefully, Heather Nye will publish this wonderful site again some day.
Heather Nye’s daughter Rebecca has Noonan Syndrome.  This site includes very clear information about the syndrome, as well as “Becky’s Story.”

TheSweetOne - Living with Noonan Syndrome | Ontario, Canada | Online Support Community
This is a great new resource for families with Noonan Syndrome, especially those in Canada.  For more information on the little girl who has Noonan Syndrome (RAF) and inspired this site, you can also visit the blog Lauren and Living with Noonan Syndrome .

Photos from TNSSG 2007 Conference
Photos from TNSSG 2008 Conference
Photos from TNSSG 2009 Conference
These are slide shows of photos taken by Rick Guidotti of Positive Exposure.  More of his photos from these conferences are available to view and buy at a password-protected site.

TNSSG Conference 2007:  Zero Gravity
TNSSG Conference 2008:  Style
These are thoughts by Kim Puchir about TNSSG Conferences and Positive Exposure.

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If you have a child with Noonan Syndrome, you may also want to check out the "Special Needs" category at  Links for Families with Young Children and Links for Early Childhood Teachers

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