Neurofibromatosis-Noonan syndrome

A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-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 cafC)-au-lait spots are present in patients diagnosed with NS).

Also known as: NFNS, neurofibromatosis type 1-Noonan syndrome, neurofibromatosis-Noonan syndrome, Noonan neurofibromatosis syndrome, Noonan-neurofibromatosis syndrome, neurofibromatosis with Noonan phenotype

38 clinical trials for this condition and its sub-types, 2 tagged with Neurofibromatosis-Noonan syndrome itself.