Neurofibromatosis-Noonan syndrome
Synonyms: NFNS | Neurofibromatosis type 1-Noonan syndrome
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1 such as café-au-lait spots iris Lisch nodules axillary and inguinal freckling optic nerve glioma and multiple neurofibromas and Noonan syndrome (NS) such as short stature typical facial features (hypertelorism ptosis downslanting palpebral fissures low-set posteriorly rotated ears with a thickened helix and a broad forehead) congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Neurofibromatosis-Noonan syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy, while supporting research and fostering the development of treatments.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
My Little Sunshine Foundation
My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.
RASopathies Network
RASopathies are a group of genetic syndromes that may be as common as 1:1000. The syndromes RASopathies Network focuses on include: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS). Our mission is to advance research to improve the quality of life for RASopathy families by bringing together families, clinicians and scientists.
SALUS
Educate and provide resources to POC with Rare Cancers
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.