Scroll down to find links related to Noonan syndrome, in the following categories:  General Information, Resources, Diagnosis, CardiologyCognition/Behavior/Language, Feeding, Gastroenterology, Growth, Hematology, Lymphatic, Motor Development, Oncology, Ophthalmology, Oral (including multiple giant cell lesions as well as dental/orthodontics), Orthopedics, Otolaryngology, Other Journal ArticlesOrganization & Online GroupsResearch OpportunitiesBlogs/Vlogs, and Miscellaneous

 

I do my best to keep this list updated and hope you find it useful.  If you find any broken links or know of an article, blog, or research opportunity that you think should be added, please contact me.

 

General Information

Noonan syndrome
2013 article by Amy E. Roberts, Judith E. Allanson, Marco Tartaglia, and Bruce D. Gelb from The Lancet free abstract, full article for a fee

 

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines 
This 2010 article was published in Pediatrics, the official journal of the American Academy of Pediatrics.  free abstract, full article for a fee

 

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.

 

Gene Reviews:  Noonan Syndrome
This was written by Dr. Judith Allanson and Dr. Amy Roberts.  It was last updated on February 25, 2016.  The "Revision History" at the bottom of the page is helpful in quickly checking out what is new.

 

Noonan Sydrome Article at MedScape
This was last updated on February 19, 2017.

 

Noonan Sydrome Article at MayoClinic.com
This was last updated on November 30, 2016.

 

Noonan Syndrome Abstract at National Organization for Rare Disorders (NORD)
This was updated in 2016.

 

"Learning About Noonan Syndrome" from National Institutes of Health’s National Human Genome Research Institute
This was last updated on Dec. 2013.

 

"Noonan Syndrome" from MedlinePlus, a service of the National Institutes of Health's  U.S. National Library of Medicine
This was last updated on January 25, 2016.

 

Noonan Syndrome at Genetics Home Reference, a service of the U.S. National Library of Medicine
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. This was last updated in May 2016. 

 

“What Are The RASopathies?” 2016 video from RASopathies Net and YourekaScience

 

 

Overview of the genetics of Noonan syndrome

This 2014 Noonan Syndrome Foundation webinar by Dr. Patroula Smpokou, a geneticist, is available for free on YouTube.

 

 

"Genetics 101"

This 2013 RASopathies Foundation webinar by Beth Hopkins Denenberg, a pediatric genetic counselor, is available for free on YouTube.

 

 

"Noonan Syndrome:  From Hither To Yon" 

This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, is available for free on YouTube.

 

 

Historical Perspective on Noonan Syndrome 

This 2010 audiovisual presentation by Dr. Jacqueline Noonan  is a part of  "Improving Care for Patients With Noonan Syndrome: Guidelines for Pediatricians" on Medscape (you must register to view, but it’s free).

 

Examining The Clinical Features of Noonan Syndrome 

This 2010 audiovisual presentation by Dr. Judith Allanson  is a part of  "Improving Care for Patients With Noonan Syndrome: Guidelines for Pediatricians" on Medscape(you must register to view, but it’s free).

 

Advances in the Molecular Genetics of Noonan Syndrome and Phenotype-Genotype Correlations 

This 2010 audiovisual presentation by Dr. Amy Roberts  is a part of  "Improving Care for Patients With Noonan Syndrome: Guidelines for Pediatricians" on Medscape (you must register to view, but it’s free).

 

Panel Discussion 

This 2010 discussion featuring Drs. Noonan, Allanson, Roberts, and Romano is a part of  "Improving Care for Patients With Noonan Syndrome: Guidelines for Pediatricians" on Medscape (you must register to view, but it’s free).

 

 

Resources

Noonan Syndrome Clinical Management Guidelines
This guide was produced with funding from "DYSCERNE: A Network of Centres of Expertise for Dysmorphology" in the United Kingdom.  Version 1 was created in February 2010 and was last reviewed in February 2011; the next review is scheduled for 2015.  The project did not receive ongoing funding so the Dyscerne web site no longer exists, but permission has been received to share the guidelines here.  

 

GEMSS - Genetic Education Materials for School Success

“The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life.”  This link is to their section on Noonan syndrome, which may be especially useful to teachers who have students with Ns.

 

Clinical features, diagnosis and management guidelines for those affected by Noonan syndrome:  A Parents Guide To Noonan syndrome
This 2012 paper, by some of the leading experts in Ns, "was supported by an Independent Medical Education Grant from Novo Nordisk, Inc, through The Noonan Syndrome Support Group."  TNSSG has dissolved, but permission has been received to share the guide here.  

 

European Network on Noonan Syndrome and Related Disorders – NSEuronet Database:   “a database that contains all published germline mutations in the known RASopathy genes (excluding NF1), unpublished mutations observed by the consortium partners and collaborators, as well as polymorphisms and unclassified variants”

 

Diagnosis

RASOPATHY DIAGNOSIS ADVANCES, Quick, accurate diagnoses are now commonplace

This 2012 article from American Journal of Medical Genetics is available for free online through Wiley Online Library.

 

 

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

This is a 2015 article from the Journal of Medical Genetics about two genes that are not yet included on any of the panel tests listed below.

 

 

Genetic Testing Registry from National Center for Biotechnology Information (NCBI)

As of January 2017, this site lists 104 tests for Noonan syndrome in several countries.

 

 

RASopathy/Noonan Spectrum Panel from Cincinnati Children's Heart Institute Diagnostic Lab - USA
Click on this link and then on “Congenital Heart Disease Panels” to find the link to a PDF with info. on a 25-gene (BRAF, A2ML1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTEN, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBCK, TSC1, and TSC2) and on two less comprehensive prenatal ones. Turnaround time is 8-10 weeks for full mutation analysis and 1-2 weeks for known mutation analysis.

 

 

Noonan Spectrum Test from SW Thames Regional Genetics Laboratory - UK

This 23-gene panel includes A2ML1, ARAF, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, MAP3K8, NF1, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, and SPRY1.

 

Greenwood Genetic Center NGS Rasopathy Panel - USA

This 23-gene panel includes A2ML1, BRAF, CABIN1, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, and SPRY1.  Turnaround time is 8 to 10 weeks.

 

Noonan Syndrome NGS Panel from Fulgent Diagnostics - USA
This 20-gene panel includes ACML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, RRAS, SHOC2, and SOS1, SOS2, and SPRED1.  Turnaround time is 2-3 weeks.

 

Noonan Spectrum Panel from Children's Hospital of Philadelphia - USA
This 20-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, PPP1CB.  Turnaround time is 4-6 weeks.

 

Noonan and RASopathies Panel from GeneDX - USA

This 19-gene panel includes ACML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, and SPRED1.  Turnaround time is 4 weeks.

 

 

Invitae RASopathies Comprehensive Panel - USA

This 18-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RIT1, RRAS, SHOC2, SOS1, SOS2, and SPRED1.

 

Noonan spectrum disorder NGS panel from Connective Tissue Gene Tests - USA
This 16-
gene panel includes BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, and SPRED1.Turnaround time is “typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.”

 

Next Gen Sequencing of 16 RASopathy related genes and Deletion/Duplication analysis from UAB School of Medicine (RAS-NG) USA

This panel looks at 16 RASopathy related genes as well as doing deletion/duplication analysis for the NF1 and SPRED genes. The genes included in this panel are BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 25 working days.

 

Next Gen Sequencing of 15 (Non-NF1) RASopathy related genes and Deletion/Duplication analysis from UAB School of Medicine (NNP-NG) - USA

This panel looks at 15 RASopathy related genes and does deletion/duplication analysis for SPRED1. The genes included in this panel are BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 25 working days.

 

 

RASopathy Gene Panel from NewGene - UK
This 15-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SPRED1.  Turnaround time is 40 working days.

 

Noonan Spectrum Disorders/RASopathies NextGen Sequencing (NGS) Panel from Prevention Genetics - USA
This 15-gene panel includes BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2.  Turnaround time is a maximum of 60 days.

 

Expanded RASopathy Panel from Partners Healthcare Center/ Personalized Medicine - USA
This 14-gene panel includes BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SPRED1.  Turnaround time is 4 to 6 weeks.

 

Noonan Syndrome NGS-Based Test from Asper Biotech - Estonia
This 13-
gene panel includes BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, and SPRED1.   Turnaround time is 6 to 9 weeks.

 

Noonan Spectrum Disorders Panel from Baylor College of Medicine's Medical Genetics Laboratories - USA
This 12-gene panel includes: 
BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1. Turnaround time is 42 days.

 

 

Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood from Mayo Clinic  - USA
This 11-gene panel includes BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, and SOS1.  Turnaround time is 12 weeks.

 

Information on PTPN11 Testing - AUSTRALASIA
This page of information on PTPN11 testing is from The Royal College of Patholgists of Australasia.  They also have information on testing for other mutations associated with RASoapthies but, at least as of April 2013, not for a panel that tests for all of them at once. 

 

Orphanet's List of International Laboratories Offering NS Testing
 

 

Cardiology

Cardiovascular disease in Noonan syndrome

2013 article by W. Prendiville,l K. Gauvreau, Erica Tworog-Dube, L. Patkin, R.S. Kucherlapati, A.E. Roberts, and R.V. Lacro from Archives of Disease in Childhood  free abstract, full article for a fee

 

RASopathies and The Heart"

This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, is available for free on YouTube. 

 

Pulmonary Hypertension in the RASopathies

2013 article by Krishna S. Vas and Jacqueline Noonan from Journal of Cardiology and Vascular Medicine

 

Cognition/Behavior/Language

Psychopathological features in Noonan syndrome

2017 European Journal of Paediatric Neurology article by Perrino et al. free abstract, full article for a fee

 

Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway

2017 Developmental Medicine and Child Neurology article by Garg, Brooks, Burns, Burkitt-Wright, Kerr, Huson, Emsley, and Green

 

 

Intellectual development in Noonan syndrome: a longitudinal study

2016 Brain and Behavior article by Roelofs, Janssen, Wingbermühle, Kessels, and Egger  

 

 

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

2015 Journal of Pediatric Neuropsychology article by Elizabeth I. Pierpont

 

 

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

2014 Developmental Medicine & Child Neurology article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy E. Roberts, free abstract, full article for a fee

A podcast discussing this article can be found at https://www.youtube.com/watch?v=lZhFdJQuZGo&feature=youtu.be

 

 

Behavioral Profile in RASopathies

2014 American Journal of Medical Genetics article by Dr. Paolo Alfieri and others, free abstract, full article for a fee

 

 

Autism traits in the RASopathies

2013 Journal of Medical Genetics article by B. Adviento, I.L. Corbin, F. Widjaja, G. Desachy, N. Enrique, T. Rosser, S. Risi, E.J. Marco, R. L. Hendren, C.E. Bearden, K.A. Rauen, and L.A. Weiss

 

 

Learning and memory in children with Noonan syndrome

2013 American Journal of Medical Genetics article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy Roberts  free abstract, full article for a fee (or can be rented for five minutes at no cost through DeepDyve)

 

Cognition, Learning and Behaviors in Noonan Syndrome

This 2013 Noonan Syndrome Foundation webinar by Dr. Rene Pierpont, is available for free on YouTube.

 

The Language Phenotype of Children and Adolescents with Noonan Syndrome
This 2010 article by E.I. Pierpont, S.E. Weismer, A.E. Roberts, E. Tworog-Dube, M.E. Pierpont, N.J. Mendelsohn, and M.S. Seidenberg was published in the Journal of Speech, Language, and Hearing Research and is available for free online through US National Library of Medicine, National Institutes of Health 

 

Genotype differences in cognitive functioning in Noonan syndrome
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, and M.S. Seidenberg
 was published in Genes, Brain, and Behavior  and is available for free online through University of Wisconsin's Language and Cognitive Neuroscience Lab.

 

Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior:Cardiofaciocutaneous Syndrome and Noonan Syndrome 
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, K. A. Rauen, and M.S. Seidenberg
  was published in  The American Journal of Medical Genetics and is available for free online through University of Wisconsin's Language and Cognitive Neuroscience Lab.

 

RAS pathway, a potentially unifying theory of autism
March 2012 article by Alan Packer for Simons Foundation Autism Research Initiative

 

Feeding

Managing Feeding Difficulties – Costello CFC, and Noonan syndromes

This presentation was made by Rebecca Howarth, a speech/language therapist of Central Manchester and Manchester Children’s University Hospitals, at a 2013 meeting in the UK.

 

Gastroenterology

"Beyond Reflux:  Feeding Intolerance, Aversion, and the Interplay of Systems"

This 2013 RASopathies Foundation webinar by Dr. Robert C. Dumont, is available for free on YouTube.

 

Feeding difficulties and foregut dysmotility in Noonan’s syndrome
This 1999 article is from Archives of Disease in Childhood.  

 

Growth

Growth charts for boys and girls with Noonan syndrome, created by Novo Nordisk (one of the pharmaceutical companies that produces growth hormone), are included in Noonan Syndrome Clinical Management Guidelines 

 

Response to long-term growth hormone therapy in patients affected by RAsopathies and growth hormone deficiency: Patterns of growth, puberty and final height data

2015 article from American Journal of Medical Genetics, free abstract, full article for a fee

 

 

Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta-Analysis

This 2014 article from the Journal of Genetic Syndromes & Gene Therapy is available for free online.

 

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

This 2012 article from American Journal of Medical Genetics is available for free online through Wiley Online Library.

 

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
2011/2012 article from Proceedings of the National Academy of Sciences of the United States of America 

 

Somatropin Information from Drugs.com

 

Growth and Endocrine Issues in Noonan Syndrome: Current Recommendations -
This 2010 audiovisual 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)  

Many of these pharmaceutical companies offer financial assistance programs, some without any income restrictions.  There’s a list of the programs at:  https://www.magicfoundation.org/Financial-Assistance/  . 

 

Hematology

Coagulation Abnormalities and Hemostatic Surgical Outcomes in 142 Patients with Noonan Syndrome
2016 article from Blood, journal of the American Society of Hematology

 

Hemostatic Abnormalities in Noonan Syndrome
2014 article from Pediatrics, the official journal of the American Academy of Pediatrics

Disordered Bleeding in Noonan's Syndrome

This 2013 Noonan Syndrome Foundation webinar by Dr. Jason L. Freedman of The Children’s Hospital of Philadelphia is available for free on YouTube.


Bleeding disorders in Noonan syndrome
2012 article by Benjamin J. Briggs and Joseph D. Dickerman from Pediatric Blood & Cancer free abstract, full article for a fee

 

Imbalance of Plasminogen Activator Inhibitor Type-1 (PAI-1) and Tissue Plasminogen Activator (t-PA) Activity in Patients With Noonan Syndrome
2010
article from Journal of Pediatric Hematology/Oncology free abstract, full article for a fee

Oncology

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
2017 article from Clinical Care Research

 

Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling
This 2015 article from Blood Cancer Journal is available free online through Nature.com.

 

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities
2015 article from Blood

 

RAS Diseases In Children
2014 article from Haematologica, the journal of the European Hematology Association

 

“Blessing in Disguise”: Noonan Syndrome with JMML
2014 article from Archives of Disease in Childhood  free abstract, full article for a fee

 

Juvenile myelomonocytic leukaemia and Noonan syndrome
2014 article from Journal of Medical Genetics  free abstract, full article for a fee

 

 

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
This 2011 article from European Journal of Human Genetics is available free online through Nature.com.

 

Lymphatic

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
2015 article from European Journal of Human Genetics free abstract, full article for a fee

 

Motor Development

Motor performance in children with Noonan syndrome
2017 article from American Journal of Medical Genetics

 

Ophthalmology

Ocular manifestations of Noonan syndrome:  A prospective clinical and genetic study of 25 patients
2016 article from Ophthalmology free abstract, full article for a fee

 

Orthopedics

Orthopaedic Conditions in Ras/MAPK Related Disorders  
2011 article is from the Journal of Pediatric Orthopaedics free abstract, full article for a fee

 

Bone resorption in syndromes of the Ras/MAPK pathway
2011 article from Clinical Genetics:  An International Journal of Genetics, Molecular, and Personalized Medicine free abstract, full article for a fee

 

 

Otolaryngology

Audiological Findings In Noonan syndrome
2016 article from Pediatric Otorhinolaryngology  free abstract, full article for a fee

 

Otolaryngologic manifestations of Noonan syndrome
2015 article from Ear, Nose, and Throat Journal  free abstract, full article for a fee

 

Oral

Oral manifestations of Noonan syndrome: review of the literature and a report of four cases
2014 article from Romanian Journal of Morphology and Embryology 

 

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
2012 article from American Journal of Medical Genetics    free abstract, full article for a fee

 

Other Journal Articles

 

Noonan syndrome in diverse populations
2017 article from American Journal of Medical Genetics

 

Chronic pain in Noonan Syndrome: A previously unreported but common symptom
2015 article from American Journal of Medical Genetics free abstract, full article for a fee

 

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature
2013 article from Seminars in Arthritis & Rheumatism free abstract, full article for a fee

 

The Face of Noonan Syndrome: Does Phenotype Predict Genotype 
This 2010 article is from The American Journal of Medical Genetics is available for free online through the National Center for Biotechonology Information, U.S. National Library of Medicine. 

 

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
This 2008 article is from Human Mutation is available for free online through Wiley Online Library.

 

 

 

 

Organizations & Online Groups

 

Please note the three different types of Facebook groups:  Secret ("Only members can find the group and see posts."), Closed ("Anyone can find the group and who's in it.  Only members can see posts."), and Public ("Anyone can see the group, its members and their posts.").  

 

 

 

Organizations (when relevant, social networking is listed below main website)

·         RASopathiesNet (partnership between RASopathies Network USA, a 501c3 Non-Profit, and the RASopathies Network UK) - main website

o   RASopathies Network -  public Facebook page

o   RASopathiesNet - Twitter page

o   rasopathiesnetInstagram page

·         Asociación Civil Sindrome de Noonan Argentina, en Colaboración con Otras RASopatías (Argentina)

o   Asociación Civil Sindrome de Noonan Argentina, En colaboración con otras RASopatías -  public Facebook page

o   Sindrome de Noonan Asociacion Civil – closed Facebook group

·         Noonan Syndrome Awareness Association (Australia)

o   Noonan Syndrome Awareness Association - NSAApublic Facebook page

·         Association Francaise du Syndrome de Costello & Cardio-Facio-Cutané (France)

·         Noonan-Kinder e.V. Deutschland (Germany)

o   Noonan Kinder e.v.Deutschlandpublic Facebook page

·         Angeli Noonan, Associazione Italia Sindrome di Noonan-Onlus (Italy)

·         Stichting Noonan Syndroom (Netherlands)

·         Federacion Española Síndrome de Noonan y otras Rasopatías (Spain)- public Facebook page

o   Noonan AndaluciaFacebook profile page

o   Asociación Sindrome De Noonan Aragonpublic Facebook page

o   Asociacion Sindrome de Noonan Asturias

§  https://www.facebook.com/noonanasturias only accessible to those in Spain?

o   Asociación Síndrome Noonan de Cantabria

§  Asociación Síndrome Noonan de Cantabria  - public Facebook page

o   Asociación Síndrome de Noonan de Cataluñapublic Facebook page

o   Síndrome de Noonan Comunidad Valenciana – public Facebook page

o   Noonan España (Spain) – being replaced by Federacion?

o   Asociación Española Síndrome de Noonan - public Facebook page being replaced by Federacion?

o   Por que se conozca el Sindrome de NOONANclosed Facebook group

o   Creciendo con Noonan

§  Asociación Creciendo con Noonanpublic Facebook page

·         Svenska Noonanföreningen   (Sweden)

·         Noonan Syndrom Schweiz (Switzerland)

·         Noonan Syndrome Foundation (USA)  - main website

o   Noonan Syndrome Foundation - public Facebook page

o   Go Team Noonan!Twitter page

o   Noonan Syndrome Foundation - closed Facebook group

o   The Noonan Friends:  The Noonan Foundation Teen and Young Adult Group -closed Facebook group for teenagers and young adults with Noonan syndrome, but there are some older adult members

o   Adults Living With Noonan Syndrome - closed Facebook group for adults who have Noonan syndrome

o   Noonan Syndrome Angels: Support For Those Left Behind. - closed Facebook group for those who have “lost loved ones to Noonan Syndrome Spectrum Disorders and other Overlapping Rasopathy Syndromes”

·         Noonan Syndrome Association (United Kingdom)

 

Organizations That Focus on Issues Common to People with Noonan Syndrome

·         Adult Congenital Heart Association

·         Children's Cardiomyopathy Foundation

·         Conquer Chiari

·         The Hypermobility Syndromes Association

·         The ILC Foundation, Improving The Life of Children for children and youth with chronic pain and illness

·         The MAGIC Foundation  “An organization providing support and education regarding growth disorders in children, as well as related adult disorders.”

·         The Human Growth Foundation

·         National Scoliosis Foundation

 

Social Network Groups Not Associated with Any of Above Organizations

·         RASopathies Family (formerly Noonan Syndrome Family) (closed Facebook Group):  This very active international group, which is not associated with any official organization, is informative and supportive.

·         Noonan Syndrome Awareness  (closed Facebook Group – was public until Oct. 2016)

·         Noonan Syndrome Support - Ontario Canada (closed Facebook group)

·         New England (USA) Noonan Syndrome Community (closed Facebook group) 

·         Noonan Syndrome TEXAS (closed Facebook group) 

·         Noonan Syndrome Western North America (closed Facebook group) 

·         r any of it's related RAS-MAPK pathways. Pacific Northwest Noonan Syndrome Community (closed Facebook group)

·         AussieAngels ( Australian Noonan Parents Group ) (closed Facebook group)

·         Noonan Syndrome Support Group - Australia (closed Facebook group)

·         Noonan's NZ  (closed Facebook group for people in New Zealand)

·         Noonan Syndrome family fun!! UK meets :)  (closed Facebook group for people in the United Kingdom)

·         Noonan-syndrome Group Ireland  (public Facebook page)

·         CFC/Noonan/costello syndromes (RAS-MAPK Pathway) Ireland (closed Facebook group)

·         Noonan Fl (closed Facebook group for people in Finland)

·         Noonan Syndrome Scandinavia (closed Facebook group)

·         SÍNDROME DE NOONAN NO BRASIL (closed Facebook group)

·         Síndrome de noonan Brasil (closed Facebook group)

·         SINDROME DE NOONAN EN ESPAÑOL [Spanish] (closed Facebook group)

·         Syndromes de Costello,cfc,rasopathies [French] (closed Facebook group) 

·         Nos enfants noonan [French] (closed Facebook group)

 

 

 

Research Opportunities

Development of the PROMIS Development of the PROMIS Pediatric Sleep Health Item Banks-Phase: Clinical Validation Among Children with WAGR Syndrome, CdLS Syndrome, Phelan-McDermid Syndrome, and RASopathy Disorders – Participation involves taking an online survey. Participants will be parents of children who have RASopathies and are 5 to 17 years of age. Children who have RASopathies and are between 8 and 17 years of age can also complete a survey.  recruiting as of April 2017 

 

 

Research Study Looking at the Relationship Between the Brain and Behavior in Noonan syndrome – Participants will be 4 to 11-year-old children who have Ns-PTPN11 and (updated 2017) 5 to 11-year-old girls who have Ns-SOS1.

 

 

Hypertrophic Cardiomyopathy Study for Individuals with Noonan Syndrome with Multiple Lentigines / LEOPARD syndrome – “We are conducting a research study at Boston Children’s Hospital (BCH) to learn more about hypertrophic cardiomyopathy (HCM) in individuals of all ages who have been diagnosed with Noonan Syndrome with Multiple Lentigines (NS-ML). NS-ML, also known as LEOPARD Syndrome.

We are asking individuals to send us as many of the following medical records over the years so that we can look for patterns and trends:

•           all heart echo reports and recordings

•           clinic notes

•           genetic testing results

We believe this effort will help us better understand how HCM affects people with NS-ML, which will help us design future research studies that may help patients with this diagnosis.

If you are interested in this research study or if you would like more information, please contact the research nurse for this study, Jane Messere, RN at 857-218-3628 or at jane.messere@cardio.chboston.org and she would be happy to provide you with more information. Thank you.” recruiting as of Dec. 2015

 

 

Study of Metabolic Modifications in Children With Noonan Syndrome FRANCE – This study includes one visit for participants between 7 and 18 years of age.  August 2016 Update: This study has been completed.

 

RASopathy Associated Traits California (RasCal) Study | UCSF Autism and Neurodevelopment Program

 

Skin Cell to Stem Cell RasCal Study | UCSF Autism and Neurodevelopment Program

 

 

Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes FRANCE – Study participants will be between 5 and 15 years of age and will need to contribute a skin biopsy (and adipose tissue biopsy if about to undergo surgery).  not yet recruiting as of November 2015

 

 

Social-Emotional Development Study – “Families with children and adolescents with neurofibromatosis type 1 or Noonan syndrome between the ages of 8 and 16 are invited to participate in a new research study! The purpose of the study is to characterize social development in individuals with neurofibromatosis type 1 (NF1), Noonan syndrome (NS) and related disorders, and to understand how emotional and behavioral development can impact interpersonal relationships. Children with NF1, NS, and their unaffected siblings are eligible to participate.” February 2017 Update: still recruiting

 

Noonan Syndrome/PTPN11 Gene Mutation Studies    - broken link as of May 2014

 

CASPER (Cognitive and Social Profiling:  Exploring RASopathies)  UK – As of July 2015, “The study has now finished recruiting participants and the results are being analyzed and prepared for publication.”

 

Search for Noonan syndrome at ClinicalTrials.gov, a service of the U.S. National Institutes of Health

 

 

Blogs/Vlogs

 

Aubrey Hope:  Our Little Heart Warrior
Aubrey has Ns (PTPN11 and CBL).  Her mother, who wrote this blog, died in November 2013.

 

Bean, Bug, & Me
“The author is a thirty four year old Mum to two wonderful children (currently three and almost one), one of whom has Noonan Syndrome.” 

 

Coasting In On Fumes
This is a blog by a woman who has Ns (PTPN11) and has two young sons who also have it.

 

Cooper's Wonderland

This blog is written by a mother of two children, one who has a clinical diagnosis of Ns.  Dec. 2016: Blog is no longer available at this address.

 

 

Cornwall 2 Capehorn

Follow Ben Davenport, a man with Ns who is taking a solo journey around the world in a Land Rover.

 

 

Christensen Weblog

This blog is written by the mother of Lydia who has Ns (PTPN11).

 

 

Dear Abby

This blog is written by the mother of Aberdeen who has Ns (KRAS).

 

 

Keeping Up with Tiny Titan
This blog is by Ann Yurcek, whose children include Becca (Ns-PTPN11 and many complex medical problems).

 

The Little Lamb and the Strong Lion

This is the story of Landen who has NswML (PTPN11) and has had a heart transplant.

 

Lauren and Living with Noonan Syndrome 
This blog is written by the mother of Lauren, a little girl who has Ns (RAF1).  Dec. 2016: Blog is now “open to invited readers only.” 

 

lifewithcartman
Carson has Ns (PTPN11). His mother writes this blog.

 

Marvelous Love 

The author of this blog has a daughter named Adelyn who is suspected of having Ns.  Dec. 2016: Blog is now “open to invited readers only.” 

 

Meet The Parkers:  Meet Ezra                                                                                                         
The Parkers’ son Ezra was found to have Ns (PTPN11) after he was diagnosed with JMML.

 

My Journey with Chance                                                                                                         
Chance has Ns (PTP11) and JMML.  His mother writes this blog.

 

Nosenfantsnoonan (in French, but Google Translate is available on the top of the screen)

The author of this blog has a daughter with Ns (SHOC2).

 

PreachersWifeSpeaks
The woman who writes this blog has a son with Ns (PTPN11).

 

Saving Brigitte
This one is by the mother of Brigitte, who has Ns (SOS1).

 

Scott Shoemake's Vlog on YouTube
Vlog #2 is about Scott’s son Holden, who has Ns (KRAS).

 

Simple Tangles | untangling this thing we call life…
This blog is written by a mother of three children, one with Ns (PTPN11) and two with Asperger's syndrome.

 

The Sol Train
The mom who writes this blog has four children, including one who has Ns (RAF1). 

 

Struggling To Thrive
The blog is written by the mother of a child with Ns (SHOC2). 

 

Welcome to the Mayr Madness!
Grace, who has Ns (PTPN11) and is doing great, is one of several children of the mother/blogger who writes this one. 

 

 

 

 

Misc.

 

Positive Exposure
Positive Exposure is a 501(c)3 charitable organization that was founded by fashion photographer Rick Guidotti. It “
utilizes photography, film and narrative to transform public perceptions of people living with genetic, physical, intellectual and behavioral differences.” The gallery section of its web site includes some of Rick’s photos of people with Noonan syndrome.

 

 

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