GTR Home > Conditions/Phenotypes > Neurofibromatosis, type 1

Disease characteristics

Excerpted from the GeneReview: Neurofibromatosis 1
Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.

Associated genes

Clinical features

  • Cafe-au-lait spot
  • Short stature
  • Hypertension
  • Hypsarrhythmia
  • Overgrowth
  • Lisch nodules
  • Axillary freckling
  • Seizures
  • Glaucoma
  • Hydrocephalus
  • Macrocephaly
  • Hypertelorism
  • Intellectual disability, mild
  • Specific learning disability
  • Renal artery stenosis
  • Aqueductal stenosis
  • Spina bifida
  • Scoliosis
  • Pheochromocytoma
  • Genu valgum
  • Meningioma
  • Rhabdomyosarcoma
  • Parathyroid adenoma
  • Astrocytoma
  • Plexiform neurofibroma
  • Optic glioma
  • Spinal neurofibromas
  • Tibial pseudoarthrosis
  • Neurofibrosarcoma
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Go to complete MedGen record for Neurofibromatosis, type 1

Clinical resources

Practice guidelines

  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • NSGC, 2007
    Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
  • ASHG/ACMG, 1995
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

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