General Information
The Noonan Syndrome Support Group Website
This web site is currently in need of a major "facelift."
Between Nov. 25 and Jan. 27, we are
trying to raise funds to hire a professional web designer who will create an
attractive, organized site where people can
people can go to find the latest information about Noonan Syndrome, easily sign
up for TNSSG ListServ, learn about TNSSG’s conferences, and donate to the
organization. Please click below to help us out!
Noonan Syndrome Family
This site is brand new so keep
checking in as more and more information about N.S. is added.
Contributions and feedback are welcomed.
Noonan Syndrome Clinical Management Guidelines
This guide is from a "Dyscerne, a network of centres of
expertise for dysmorphology" and was created in February 2010 and is
reviewed annually.
Noonan
Syndrome: What Physicians Need to Know
You will need to register (it's free)
with Medscape to view this September 2007 article by Dr.
Jacqueline Noonan, Dr. Amy Roberts, and Dr. Jovanna Dahlgren.
Improving Care for Patients
With Noonan Syndrome: Guidelines for Pediatricians
You will need to register (it's free)
with Medscape to view these June 2010 presentations by Dr.
Jacqueline Noonan, Dr. Judith Allanson, Dr. Amy Roberts, and Dr. Alicia Romano.
Noonan
Syndrome: Clinical Features, Diagnosis, and Management Guidelines
This article was published in
Pediatrics, the official journal of the American Academy of Pediatrics in
September 2010.
Gene Reviews: Noonan Syndrome
This was written by Dr. Judith Allanson and last updated in October 2008. The "Revision
History" at the bottom of the page is helpful in quickly checking out what is new.
Noonan Sydrome Article at eMedicine
This was last updated in
April 2010.
Noonan Syndrome Article at MedicineNet.com
This was last updated in May 2008.
Noonan Sydrome Article at MayoClinic.com
This was last updated in January 2011.
Noonan Syndrome Article at MedlinePlus Medical Encyclopedia
This was last updated in August 2009.
Noonan
Syndrome at Genetics Home Reference, a service of the U.S. National Library of
Medicine
This was last updated in March 2011.
Click on its links to BRAF, PTPN11, KRAS, SOS1, NRAS, 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.
RASopathy Network | Pathway to discovery
This site provides information on all
of the known syndromes of the RAS-MAPK pathway (Noonan Syndrome, LEOPARD
Syndrome, Costello Syndrome, Legius Syndrome, CFC Syndrome, NF1, Hereditary
Gingival fibromatosis type 1, Capillary malformation-AV malformation syndrome,
and Autoimmune lymphoproliferative syndrome) and links to sites to get specific
information on each of them.
Resources
Noonan Spectrum Chip
This is The Harvard Medical School – Partners Healthcare Center for
Genetics and Genomics's test of eight genes that have been associated with
Noonan spectrum disorders (Noonan, LEOPARD, Cardio-facio-cutaneous,
and Costello syndromes).
Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello
Syndromes Comprehensive Noonan Syndrome Resequencing Array
Gene DX is now offering simultaneous testing of 8 genes of the RAS/MAPK pathway:
PTPN11, RAF1, SOS1, KRAS, BRAF, MAP2K (MEK1), HRAS, and SHOC2.
The following links are to PDFs of growth charts for people with Noonan Syndrome, which have been posted by TNSSG at their web site. The charts were created by Novo Nordisk, which sells growth hormone, and copyrighted in 2007:
Growth Chart: Girls with Noonan Syndrome, 0 to 36 months
Growth Chart: Girls with Noonan Syndrome, 2 to 20
Growth Chart: Boys with Noonan Syndrome, 0 to 36 months
Growth Chart: Boys with Noonan Syndrome, 2 to 20
Online Groups
Noonan, Turner, Costello, CFC Syndrome Group at BabyCenter.com
Noonan Syndrome Family: This is an informal, very supportive, and often fun Facebook group. On the upper right of the page is a place to ask to join the group.
The Noonan Friends: This is a Facebook group for teenagers and young adults with Noonan Syndrome. On the upper right of the page is a place to ask to join the group.
The following three are all from The Noonan Syndrome Support Group:
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Their HOME.EASE.LSOFT.COM E-Mail ListServ is the largest and most active of the TNSSG's online groups. If you're not a member of any other HOME.EASE groups, you'll need to click on "Login Required" and then "get a new LISTSERV password." After you respond to two confirmation e-mails, your request will go to the list manager. Another way to request list membership is to send an e-mail to listserv@home.ease.lsoft.com with only the following command in the message body: subscribe noonan-syndrome . Many people have had difficulty joining this list in either of these ways lately; there is a contact e-mail at www.noonansyndrome.org that may be helpful.
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Ning Network ("Your Noonan Connection") This is an invitation-only group. Any current member can invite you, and there is a link at www.noonansyndrome.org to request membership.
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TNSSG's Closed Facebook Group: On the upper right of the page is a place to ask to join the group.
These
two Yahoo groups, associated with
www.careplace.com, are not very active at this time and unfortunately get
used by spammers more than anybody else:
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 Learning and Language in 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 has been completed.
Blogs
Lauren and Living with Noonan Syndrome
This blog is written by the mother of Lauren, a little girl who has N.S. (RAF1).
Raising Justice: A
Mother's Story of Raising Her Daughter with Special Needs
Justice has N.S.
Life with Critters
"Thing 2," as she is referred to in this blog by her mother, has N.S.
(clinical diagnosis)
Coasting In On Fumes
This is a blog by a woman who has N.S. (PTPN11) and has two young sons who also
have it.
Saving
Brigitte
This one is by the mother of Brigitte, who has N.S. (SOS1)
Durga's Toolbox
This blog is by the mother of a
child who has N.S. (clinical diagnosis, may soon be changed to a different
diagnosis).
The Sol Train
The stay-at-home mom who writes this blog has four children, including one who
has N.S.
PreachersWifeSpeaks
The woman who writes this blog has a son with N.S.
(PTPN11).
Growth Hormone Treatment
Somatropin Information from Drugs.com
Growth and Endocrine Issues
in Noonan Syndrome: Current Recommendations
This 2010
presentation by Dr. Romano is a part of "Improving
Care for Patients With Noonan Syndrome: Guidelines for Pediatricians" on
Medscape.
These are some of the pharmaceutical companies that produce and sell growth
hormone
Genotropin (Pfizer)
Humatrope
(Lilly)
Norditropin (Novo Nordisk) and
Norditropin (USA)
Nutropin®
(Genentech)
Omnitrope (Sandoz)
Saizen (EMD Serono)
TEV-TROPIN® (Teva)
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.
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.
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."
The Face of
Noonan Syndrome: Does Phenotype Predict Genotype
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