Neurofibromatosis (NF) is a group of genetic conditions characterised by growth of neurofibromas (benign tumour that grows on the body’s nerves).¹

Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis. NF1 affects multiple body systems and commonly affects the skin, nervous system, eyes, bones, learning, and behaviour.^2,3 Neurofibromas can grow anywhere in the body’s nerves. Whilst the neurofibromas are benign (non-cancerous/harmless), they may sometimes cause pain, affect normal function of the nerves, or become cancerous.^1-3 Some features of NF1 are present from birth, while others may appear later in childhood and adulthood. NF1 can affect both males and females.^1,3

Synonyms: NF1, nonmosaic neurofibromatosis type 1, nonmosaic NF1, Von Recklinghausen disease, Nf1-microdeletion syndrome, peripheral neurofibromatosis.^4,5

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:636 Neurofibromatosis type 1

ICD-11: LD2D.10 Neurofibromatosis type 1

Symptoms and severity of NF1 may vary widely between individuals, even within the same family, and often progress with age.^2,6

Some symptoms and features of NF1 include:^1,2,6,8

Some people with NF1 may have an increased risk of cancers and tumours such as breast cancer, malignant peripheral nerve sheath tumour (MPNST), pheochromocytoma (adrenal gland tumours), malignant gliomas (brain tumours), gastrointestinal stroma tumours, rhabdomyosarcoma, and malignant fibrous histiocytoma of the thyroid.^7,8

There may also be issues with the heart, lungs, endocrine system and gastrointestinal system.

Please speak to your medical team to learn more about the symptoms and complications of NF1.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

NF1 is a genetic condition. It is caused by disease-causing genetic changes (variants) in the neurofibromin (NF1) gene on chromosome 17.² Neurofibromin is a protein that regulates cell growth by acting as a tumour suppressor. The genetic variants in NF1 gene causes either neurofibromin levels to be reduced or the neurofibromin does not function properly, leading to the development of tumours.²

NF1 can occur randomly (de novo) in an affected individual prior to birth, or be passed down (inherited) from their parents.² Everyone has 2 copies of each gene, one from their mother, and one from their father. NF1 is an autosomal dominant condition, which means that having a genetic variant in just one of the NF1 gene copies can result in NF1. If a parent has the NF1 gene variant, there is a 50% chance that they will pass that genetic variant to each of their children.³ More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance factsheet.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis for NF1 may be made based on:^2,3,6

• physical examination to look for skin features such as café-au-lait spots, freckles in armpit and/or groin area.
• family history of NF1
• ophthalmologic/Eye examination such as optical coherence tomography (eye scan) or slit lamp examination, to look for characteristic signs of the eyes.
• medical imaging such as magnetic resonance imaging (MRI) scans, X-rays, CT scans, to look for neurofibromas and bone abnormalities.
• genetic testing – a genetic diagnosis alone may not be sufficient to confirm a NF1 diagnosis

International consensus diagnostic criteria recommendations for NF1 are outlined in the Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation, which was developed by an international panel of neurofibromatosis and schwannomatosis experts from 19 different countries including Australia and published in 2021.

A differential diagnosis can rule out other conditions that have similar symptoms, such as Legius syndrome, Fibrous dysplasia/McCune-Albright syndrome, Noonan syndrome with lentigines, Proteus syndrome, schwannamatosis.^2,4

Please speak to your medical team to learn more about the available diagnostic pathways for NF1.

There is currently no curative treatment for NF1.² Treatment is targeted at managing symptoms (symptomatic management), regular monitoring to enable early intervention, and involves a multidisciplinary team. Treatments may include:

• surgery to remove or reduce the size of tumours where suitable
• support for learning and development including speech therapy, occupational therapy and physiotherapy
• management of pain
• management of bone abnormalities which may require surgery

For some NF1 individuals with plexiform neurofibromas that causes symptoms (symptomatic) and cannot be removed by surgery (inoperable), therapy may include use of oral medication such as a protein kinase inhibitor drug, that reduces tumour size and associated symptoms This medication is subsidised in Australia by the Pharmaceutical Benefits Scheme (PBS) for eligible individuals. More information can be found at Services Australia: PBS medicines Neurofibromatosis type 1.

It is recommended that individuals with NF1 are regularly monitored and evaluated for NF1-associated tumours, cancers, bone health, cardiac health, hypertension, vasculopathy (abnormalities in blood vessels), and treated accordingly.⁸

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the treatment of NF1 may include general practitioners (GP), cardiologists, dermatologists, endocrinologists, geneticists, neurologists, oncologists, ophthalmologist, orthopaedic surgeons, paediatricians, psychologists and others.^2,4,6 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Children’s Tumour Foundation: NF Clinics has information on clinics specialising in the care of people with NF in Australia.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness and is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. If this is relevant to you and you wish to find out more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

NSW Government eviQ: NF1 (Neurofibromatosis type 1) – risk management, updated in 2025.

Sydney Chilren’s Hospital Network: Neurofibromatosis Type 1 Review Guidelines, includes recommendations for annual review, updated in 2024.

Northern Sydney Local Health District: Breast screening in neurofibromatosis

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation – developed by an international panel of neurofibromatosis and schwannomatosis experts from 19 different countries including Australia; published in 2021.

The following additional guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 – developed by a NF1 expert group and patient representatives from 8 different countries; published in 2023.
• Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) – developed by medical experts with expertise in NF1; published in 2018.
• Health Supervision for Children with Neurofibromatosis Type 1 – developed by medical experts from United States; published in 2019.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

In addition, individuals, their parents, families and carers often develop extensive expertise on their specific rare disease. It is important to recognise that they can contribute valuable knowledge about their rare condition. Rare diseases often impact individuals differently, so it’s important to consider a person’s lived experience.

More information about NF1 research can be found at:

• Children’s Tumour Foundation: Research
• Murdoch Children’s Research Institute: Neurofibromatosis type 1 (NF1)

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries. For more information, please visit the RARE Portal’s Considerations for Participating in Health and Medical Research page.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in research, including clinical trials,  with your medical team to determine suitability and eligibility.

Australian Organisations:
Children’s Tumour Foundation
Website: https://www.ctf.org.au/
The Children’s Tumour Foundation is a patient advocacy and support service for kids, adults and families impacted by all types of neurofibromatosis, including NF1, NF2-related schwannomatosis and schwannomatosis.

Flicker of Hope
Website: https://www.flickerofhope.org.au/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

NF1 varies between individuals, and each person’s experience is unique.

Children’s Tumour Foundation: Hero Stories has personal stories of individuals living with neurofibromatosis.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Children’s Tumour Foundation runs a Support Helpline and NF Connect virtual peer support sessions for people living with NF, their family, carers and friends in Australia.

Children’s Tumour Foundation: School Resources has resources for teachers and educators to support children with NF in an education setting.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on NF1 can be found at:

• Children’s Tumour Foundation: Living with NF includes information for teens, adults and family and carers.
• Kids Health Info: Neurofibromatosis type 1 (NF1)
• Genetic and Rare Diseases (GARD) Information Center: Neurofibromatosis type 1
• National Organisation for Rare Diseases (NORD): Neurofibromatosis 1

Children’s Tumour Foundation: Healthcare Professionals

GeneReviews®: Neurofibromatosis 1

Online Mendelian Inheritance in Man (OMIM): #162200 Neurofibromatosis, type 1; NF1

Orphanet: Neurofibromatosis type 1

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Children’s Tumour Foundation.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.