Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL syndrome) is a genetic condition caused by genetic changes to the BPTF gene.^1-4 Neurodevelopmental disorders are conditions that affect a person’s ability to learn, which includes developing skills related to thinking, communication and motor (movement).

There are some characteristic features associated with NEDDFL syndrome, such as:

• ‘Dysmorphic facies’ which refers to the characteristic facial features, such as microcephaly (a small head size)
• ‘Distal limb anomalies’ which refers to the differences in hands and feet, such as short fingers or toes.

NEDDFL syndrome is present from birth and does not progress (worsen) over time. Some characteristic features are present at birth, but other symptoms may only become apparent at later ages. The symptoms range from mild to severe, and varies between individuals.

Synonyms: NEDDFL, 17q24.2 microdeletion syndrome, BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.^2,3

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:686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

There is no known ICD:11 classification.

ICD-10: Q87.8 Other specified congenital malformation syndromes, not elsewhere classifie

The symptoms of NEDDFL syndrome vary in range and severity between different individuals. Some people may have many of the symptoms, whereas others may only experience a few.^1-2,4-7 The following features have been reported in medical literature but are based on a low number of individuals. These observations may not be the case for every individual with NEDDFL syndrome and may not all be specific to NEDDFL syndrome.

Characteristic features of NEDDFL syndrome include:^1-2,4-7

• Developmental delays such as delayed development of cognitive (thinking), speech and language, feeding, social, and motor (movement) skills
• Facial features such as small head size (microcephaly), wide gap between eyes, slanting eyes, smaller eyelid opening, prominent or small nose features, thin upper lip, and small chin.
• Anomalies of the fingers and toes which may include overlapping toes, small fingers or toes, small hands, flat feet, wide toes and curved fingers.

Other features observed in some individuals include:^1-2,4-7

• Low muscle mass (hypotonia)
• Short stature
• Slow growths as a baby or child (failure to thrive)
• Seizures
• Mild eye problems such as misaligned eyes or near-sightedness (myopia)
• Recurrent vomiting

Please speak to your medical team to learn more about the signs and symptom of NEDDFL syndrome.

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.

NEDDFL syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in the BPTF gene on chromosome 17.¹ These genetic variants include single base changes (sequence variants/ single DNA changes in the genetic code) and deletions. For more information on different types of genetic variants, please refer to Centre for Genetics Education: Types of genetic variation.

All individuals have two copies (alleles) of the BPTF gene – one on each chromosome that is inherited from each parent. NEDDFL syndrome is an autosomal dominant condition, which means that having a genetic variant in just one of the BPTF gene copies can result in NEDDFL syndrome.¹

For most individuals with NEDDFL syndrome, the genetic variant in their BPTF gene occurred spontaneously/randomly (de novo) prior to birth and was not inherited from parents. In rare cases, the autosomal dominant genetic variant can be inherited from an affected parent with mild symptoms.¹ A genetic variant that causes NEDDFL syndrome can be passed onto the next generation.¹ If a parent has the autosomal dominant gene variant, there is a 50% chance that they will pass that genetic variant to each of their children. More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance.

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

We are not aware of any published clinical diagnostic criteria for NEDDFL syndrome.

Diagnosis of NEDDFL syndrome may be based on clinical examination, family and medical history, and genetic testing.

As part of the diagnosis process, doctors may also perform other tests to rule out other neurodevelopmental conditions with similar symptoms.

Please speak to your medical team to learn more about the available pathways for diagnosis of NEDDFL syndrome.

There is currently no curative treatment for NEDDFL syndrome. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include physiotherapy and use of assistive equipment to help with mobility, occupational therapy, speech therapy, and use of augmentative and alternative communication (AAC) tools.

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 care of individuals with NEDDFL may include general practitioners (GP), paediatricians, clinical geneticists, genetic counsellors, speech therapists, occupational therapists and physiotherapists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

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

We are not aware of any clinical care guidelines for NEDDFL syndrome in Australia or internationally. If you know of any relevant care guidelines, please let us know via the Contribute page.

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.

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 Organisation:
BPTF Families
Website: https://www.bptffamilies.org/
BPTF Families aims to connect and empower individuals and families impacted by the BPTF-associated neurodevelopmental syndrome.

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.

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

Personal story shared with RVA: Lauren’s Story

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.

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 NEDDFL syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: 17q24.2 microdeletion syndrome
• National Organization for Rare Disorders (NORD): Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Online Mendelian Inheritance in Man, OMIM^®:# 617755; neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; NEDDFL

Orphanet: BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

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.