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 February 2026
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Neurofibromatosis-Noonan syndrome?
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Advocacy Organizations
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy and all thick heart muscle disorders, while supporting research and fostering the development of treatments.
RASopathies Network
Our mission is to advance research to improve the quality of life for RASopathy families by bringing together clinicians, scientists, and families.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.