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). [ Orphanet:638 ]
Synonyms: neurofibromatosis-Noonan syndrome NFNS neurofibromatosis type 1-Noonan syndrome
Term information
- SCTID:715344006 (MONDO:equivalentTo)
- DOID:0111683 (MONDO:equivalentTo)
- GARD:372 (MONDO:GARD)
- MESH:D009456 (Orphanet:638/e)
- MEDGEN:419089 (MONDO:equivalentTo)
- MESH:C537393 (Orphanet:638/e)
- Orphanet:638 (OMIM:601321)
- OMIM:601321 (Orphanet:638/e)
- UMLS:C2931482 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/4374
https://github.com/monarch-initiative/mondo/issues/5682
http://identifiers.org/medgen/419089
https://omim.org/entry/601321
http://identifiers.org/mesh/C537393
http://identifiers.org/snomedct/715344006
http://purl.obolibrary.org/obo/DOID_0111683
http://www.orpha.net/ORDO/Orphanet_638
http://linkedlifedata.com/resource/umls/id/C2931482
http://purl.obolibrary.org/obo/MONDO_0019289
http://purl.obolibrary.org/obo/MONDO_0019300
neurofibromatosis with Noonan phenotype
Noonan neurofibromatosis syndrome
Noonan-neurofibromatosis syndrome