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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1


Other Names for this Disease

  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of neurofibromatosis type 1 (NF1)?

Beginning in early childhood, almost all people with NF1 have multiple cafĂ©-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.[1]

The eyes can also be affected by NF1. During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.[1]

Most adults with NF1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with NF1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with NF1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).[1]

Additional signs and symptoms of NF1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with NF1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.[1]

Last updated: 6/6/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofibromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cafe-au-lait spot 100%
Lisch nodules 95%
Benign neoplasm of the central nervous system 90%
Generalized hyperpigmentation 90%
Hypermelanotic macule 90%
Kyphosis 90%
Melanocytic nevus 90%
Multiple lipomas 90%
Neoplasm of the skin 90%
Attention deficit hyperactivity disorder 50%
Freckling 50%
Hearing impairment 50%
Heterochromia iridis 50%
Incoordination 50%
Memory impairment 50%
Migraine 50%
Neurological speech impairment 50%
Paresthesia 50%
Proptosis 50%
Skeletal dysplasia 50%
Slender long bone 50%
Short stature 31%
Plexiform neurofibroma 30%
Specific learning disability 30%
Abnormality of the respiratory system 7.5%
Arterial stenosis 7.5%
Glaucoma 7.5%
Hydrocephalus 7.5%
Hypertension 7.5%
Hypopigmented skin patches 7.5%
Leukemia 7.5%
Limitation of joint mobility 7.5%
Macrocephaly 7.5%
Neoplasm of the gastrointestinal tract 7.5%
Neuroendocrine neoplasm 7.5%
Precocious puberty 7.5%
Sarcoma 7.5%
Scoliosis 7.5%
Seizures 7.5%
Tall stature 7.5%
Urinary tract neoplasm 7.5%
Visual impairment 7.5%
Tibial pseudoarthrosis 4%
Aqueductal stenosis 1.5%
Genu valgum 1.5%
Hypsarrhythmia 1.5%
Optic glioma 1.5%
Renal artery stenosis 1.5%
Spinal neurofibromas 1.5%
Meningioma 1%
Pheochromocytoma 1%
Astrocytoma -
Autosomal dominant inheritance -
Axillary freckling -
Hydrocephalus -
Hypertelorism -
Hypertension -
Inguinal freckling -
Intellectual disability, mild -
Neurofibrosarcoma -
Overgrowth -
Parathyroid adenoma -
Rhabdomyosarcoma -
Spina bifida -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Neurofibromatosis type 1. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition=neurofibromatosistype1. Accessed 3/18/2011.


Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.