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Genetic syndromes and other conditions

Neurofibromatosis type 1 (NF1)

An inherited disease involving spots on the skin and benign (non-cancerous) tumors along nerves.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Neurofibromatosis type 1 is an inherited disease that affects the skin and the nerves. Light brown patches appear on the skin. Benign (non-cancerous) tumors called neurofibromas grow along the nerves. How severe the disease is varies greatly from person to person, even within the same family.

Which symptoms can occur?

Symptoms often appear in childhood and can increase with age.

  • Flat, coffee-with-milk-colored patches on the skin (common; in early childhood)
  • Freckling in the armpits and groin (common)
  • Soft lumps on or under the skin, called neurofibromas (common; in most adults)
  • Learning difficulties or attention deficit (common)
  • A tumor along the optic nerve; it can affect vision (sometimes)
  • Bone problems such as curvature of the spine (sometimes)

How is it diagnosed?

The diagnosis is often made through an examination. Two or more typical signs are enough for the diagnosis. An eye examination and, if needed, an MRI are done. A genetic test supports the diagnosis.

Treatment and care

If the symptoms are not causing problems, regular check-ups are done. In children, the eyes and blood pressure are checked regularly. Tumors that cause problems can be removed with surgery; targeted medicines are used for some tumors. Educational support is helpful for learning difficulties. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

NF1 is passed on through dominant inheritance: a single changed gene is enough. In about half of people, the change arises for the first time. For each child of a person with NF1, the chance is 50%; genetic counselling explains this in detail.

Source: MedlinePlus Genetics – Neurofibromatosis type 1 · NHS – Neurofibromatosis type 1 · GeneReviews – Neurofibromatosis 1

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe) · Birth prevalence: 1-5 per 10 000 (Worldwide)
How is it inherited?
Autosomal dominant
When does it usually start?
Newborn period, Infancy
Gene(s) involved
NF1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about NF1

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 43 active interventional studies for this disease. 17 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:636 · ICD-11 LD2D.10

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.