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
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