neurofibromatosis-Noonan syndrome
Findings
No curated finding names neurofibromatosis-Noonan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0011035), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Low-set earsHPOHP:0000369
- 22 of 22 reported patients
- Multiple cafe-au-lait spotsHPOHP:0007565
- 22 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- 22 of 22 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 20 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 18 of 22 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: neurofibromatosis-Noonan syndrome
- Also called
- neurofibromatosis type 1-Noonan syndromeNFNS