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Neurofibromatosis-Noonan syndrome

Disease definition

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).

ORPHA:638

Classification level: Disorder
  • Synonym(s):
    • NFNS
    • Neurofibromatosis type 1-Noonan syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 601321
  • UMLS: C0553586  C2931482
  • MeSH: C537393  D009456
  • GARD: 372
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.