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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neurofibromatosis type 1


Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
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Your Question

My son was diagnosed with NF1. At birth, doctors noticed his neck was shorter and his eyes and ears where tilted a bit. They ran some test and discovered that he is missing the whole gene instead of it just being mutated. His genetic doctor said he's never really seen this before and can't really tell me much about how it's going to affect my son. I was just wondering if you had any information on this gene being completely missing.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How often is neurofibromatosis type 1 caused by a deletion of the entire NF1 gene?

Neurofibromatosis type 1 (NF1) is caused by changes (mutations) in the NF1 gene. Approximately 4-5% of patients with NF1 have a deletion of the entire NF1 gene.[1]
Last updated: 7/20/2015

What signs and symptoms have been described in people with a deletion of the entire NF1 gene?

In general, the symptoms of neurofibromatosis type 1 (NF1) appear to be more severe when a person has a deletion of the entire NF1 gene. For example, people with a whole-gene deletion often have the following symptoms:[1]
  • Large numbers and early (before adolescence) appearance of cutaneous neurofibromas (nerve tissue tumors of the skin)
  • More frequent and more severe cognitive abnormalities
  • Overgrowth (especially in height) between ages two and six years
  • Large hands and feet
  • Distinct facial features, such as a prominent forehead, low set ears, and droopy eyelids (ptosis)

Other features that have been reported include heart abnormalities such as congenital heart defects or hypertrophic cardiomyopathy. Some research suggests that patients with NF1 whole-gene deletions have an increased risk for developing cancerous tumors (malignant peripheral nerve sheath tumors).[1]
Last updated: 7/20/2015

References
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.