Van Asperen syndrome is another name for a rare genetic condition called NF1 microdeletion syndrome or chromosome 17q11.2 deletion syndrome. In this condition, a small piece of chromosome 17 is missing. This missing piece always includes the NF1 gene, which controls a protein called neurofibromin that helps keep cell growth under control.
Van Asperen syndrome is another name for NF1 microdeletion syndrome, a rare form of neurofibromatosis type 1 (NF1) caused by a larger-than-usual deletion on chromosome 17q11.2 that removes the NF1 gene and several neighboring genes at the same time. This is called a “contiguous gene deletion”. People with this microdeletion usually have typical NF1 skin signs plus tall stature, large head (macrocephaly), facial differences, more numerous neurofibromas, learning and behavior problems, and a higher risk of certain tumors than people with “classic” NF1 point mutations. [1]
Because this chunk of DNA is lost, the person has a more severe form of neurofibromatosis type 1 (NF1). People often show overgrowth (tall or large body size), large head (macrocephaly), special facial features, many skin tumors called neurofibromas, learning problems, and higher risk of some cancers.
This syndrome is autosomal dominant. That means one changed copy of the gene is enough to cause the condition. A person can inherit it from an affected parent, or it can appear for the first time in a child because of a new (de novo) deletion.
This explanation is for learning only. It cannot replace advice from your own doctor or genetic specialist.
Other Names
Van Asperen syndrome is known by many other names in medical books and databases. These names describe the same or very closely related condition:
Chromosome 17q11.2 deletion syndrome
Chromosome 17q11.2 deletion syndrome, 1.4 Mb
17q11 deletion syndrome
17q11 microdeletion syndrome
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Neurofibromatosis 1 microdeletion syndrome
NF1 deletion syndrome
Macrocephaly–macrosomia–facial dysmorphism syndrome (MMFD)
Overgrowth–macrocephaly–facial dysmorphism syndrome
RNF135-related overgrowth syndrome
Monosomy 17q11
del(17)(q11) syndrome
These names come from rare-disease and gene databases that list Van Asperen syndrome as a synonym of NF1 microdeletion or 17q11.2 deletion.
Types
Doctors often group Van Asperen (NF1 microdeletion) syndrome by the type of deletion in the NF1 region:
Type 1 NF1 microdeletion (classic 1.4 Mb deletion)
The most common type.
About 1.4 million DNA “letters” are missing.
This deletion includes the NF1 gene and around 13–14 nearby genes.
It is linked to typical “severe” features like marked overgrowth, macrocephaly, facial changes, many early neurofibromas, and strong learning problems.
Type 2 NF1 microdeletion (about 1.2 Mb)
Slightly smaller deletion.
It affects NF1 and a slightly different set of neighboring genes (including a gene called SUZ12 or its pseudogene in some patterns).
People may still have serious problems, but sometimes the facial features and cognitive issues can be a bit different from type 1.
Type 3 NF1 microdeletion (about 1.0 Mb)
Even smaller recurrent deletion.
Still removes NF1 and some nearby genes but in a different pattern.
Clinical picture can be somewhat milder in some people, but there is still increased tumor and learning risk.
Atypical NF1 deletions
These deletions are larger or smaller than the usual type 1–3.
The exact genes lost vary from person to person.
Because different genes are missing, the symptoms can be very different, from milder to much more severe.
Causes
All “causes” below describe why or how Van Asperen syndrome happens or what increases the chance that it appears. They are closely related to the NF1 microdeletion and its biology.
Contiguous gene deletion on chromosome 17q11.2
The main cause is a chunk of DNA missing on chromosome 17 at position q11.2. This is called a contiguous gene deletion, because many genes in a row are lost together. This region always includes the NF1 gene and several nearby genes, and that combined loss creates the syndrome.Loss (haploinsufficiency) of the NF1 gene
The NF1 gene normally makes neurofibromin, which helps slow down cell growth signals (especially the RAS-MAPK pathway). When one copy is missing, there is not enough neurofibromin, cells grow and divide more than they should, and tumors called neurofibromas can form more easily.Deletion of neighboring genes that modify severity
The standard 1.4 Mb deletion also removes several other genes (for example RNF135, SUZ12 and others). These genes are thought to add to overgrowth, facial shape changes, and cognitive problems. So the syndrome is usually more severe than NF1 caused by a small change inside the NF1 gene only.Non-allelic homologous recombination (NAHR)
The microdeletion often happens because sections of repeated DNA around NF1 get mis-aligned during cell division. The repair system then joins the wrong pieces, and a big piece between them is lost. This process is called non-allelic homologous recombination.Autosomal dominant inheritance from an affected parent
If a parent has Van Asperen (NF1 microdeletion) syndrome, each child has a 50% chance to inherit the same deletion. This is because the change is on one of the autosomes (non-sex chromosomes), and one changed copy is enough to cause the condition.De novo (new) germline deletion
Many people with NF1 microdeletion have no affected parent. In these cases the deletion started as a new error in the egg or sperm, or very early after conception. The child is the first in the family to have the syndrome, but they can pass it to their own children.Parental germline mosaicism
Sometimes a parent’s body looks normal, but some of their egg or sperm cells carry the deletion. This is called germline mosaicism. It can cause more than one child in the family to have the syndrome, even though both parents test normal on simple blood tests.Advanced paternal age
Studies in NF1 show that fathers who are older, especially over 40–50 years, have a higher risk of new NF1 mutations, likely because sperm cells divide many times and collect DNA errors over life. This may also contribute to new NF1 microdeletions.General de novo copy-number variant mechanisms
The NF1 microdeletion is a type of copy-number variant (a large DNA piece deleted). Such changes often arise randomly during the copying or repair of DNA, especially in regions rich in repeated sequences, as is true around NF1.High inherent mutation rate of the NF1 region
The NF1 gene region is known to have a high mutation rate compared with many other genes. This makes structural changes like deletions more likely to occur by chance.Loss of RNF135 and overgrowth tendency
In some people, loss of the RNF135 gene within the deletion is linked to tall stature, large head, and generalized overgrowth. This helps explain why Van Asperen syndrome often shows bigger growth problems than ordinary NF1.Loss of SUZ12 and cognitive / facial features
Deletion of the gene SUZ12, part of a chromatin-regulating complex, is linked to more severe intellectual disability and facial dysmorphism in type 1 microdeletion cases compared with smaller, atypical deletions that spare SUZ12.RAS-MAPK pathway over-activation
Because neurofibromin is a natural brake on the RAS-MAPK pathway, its loss leads to over-active growth signaling. This pathway contributes to tumor formation, abnormal nerve function, and some learning problems, so its over-activation is a key disease mechanism.Increased risk of malignant peripheral nerve sheath tumors (MPNST)
People with NF1 microdeletion have a higher risk of aggressive tumors called MPNST compared with classic NF1. This is partly because more genes that protect against cancer are deleted, making tumor cells more likely to become malignant.Associated cardiac and skeletal gene loss
Some genes in the deleted region are involved in heart and bone development. Their loss may lead to heart defects and skeletal anomalies, which are seen more often in microdeletion patients than in people with usual NF1 mutations.Brain development effects from multi-gene loss
The combined loss of NF1 and neighboring genes affects brain wiring and synapse function. This leads to global developmental delay, low IQ in many patients, and speech and learning problems.Overgrowth signals during childhood
Children with the microdeletion are more likely to show overgrowth in early life, including tall stature and large hands and feet. This appears related to the specific set of genes lost, which affect growth signaling pathways beyond neurofibromin alone.Higher number and earlier start of neurofibromas
Many studies show that NF1 microdeletion patients develop more cutaneous and subcutaneous neurofibromas, and at a younger age, than patients with smaller NF1 mutations. The deletion likely makes nerve-sheath cells more prone to tumor formation.Possible environmental and random DNA damage
Like other structural genetic changes, NF1 microdeletions may be helped by random DNA damage from the environment (for example radiation or some chemicals), though in most cases no clear external trigger is found and the change is considered spontaneous.Background of NF1 as a common single-gene disorder
NF1 itself is one of the most common single-gene disorders worldwide. Because so many NF1 mutations already exist in the population, and the region is unstable, a subset of patients will naturally have the larger microdeletions that define Van Asperen syndrome.
Symptoms
Not every person has all of these symptoms. But many people with Van Asperen (NF1 microdeletion) syndrome show several of them, often more strongly than in usual NF1.
Multiple café-au-lait spots
These are flat, light-brown skin patches, often present in early childhood. People with NF1 microdeletion usually have many spots, often larger and more numerous, because the missing NF1 region affects pigment cells and skin nerves.Freckles in skin folds (axillary and inguinal freckling)
Tiny brown spots can appear in the armpits, groin, and under the breasts. These are typical NF1 signs and also common in NF1 microdeletion. They show that pigment cells and nerves in these areas are affected.Numerous cutaneous and subcutaneous neurofibromas
Soft or firm bumps under or on the skin are called neurofibromas. In NF1 microdeletion, there are often more tumors and earlier in life, which can cause cosmetic issues, discomfort, or rarely pain and nerve problems.Plexiform neurofibromas
These are larger, often deep tumors that grow along big nerves like a “bag of worms”. They can cause swelling of a limb or face, pain, or pressure on nearby organs. People with NF1 microdeletion have higher risk of these complex tumors.Macrocephaly (large head size)
Many people with Van Asperen syndrome have a head size above average for age and sex. This may reflect changes in brain growth and skull formation due to multi-gene loss in the deleted region.Overgrowth (tall stature or large body size)
Children can be taller or heavier than expected for their age. Hands and feet may look large. This overgrowth is a characteristic sign and relates to the deleted genes involved in growth control, such as RNF135.Facial dysmorphism (special facial features)
Doctors may notice a broad forehead, widely spaced eyes, coarse facial features, or a long philtrum (area between nose and upper lip). These features vary but help specialists suspect a microdeletion form of NF1 rather than classic NF1 alone.Global developmental delay in early childhood
Many children are slow to sit, crawl, walk, and speak. They may need early physical, occupational, and speech therapy. Delay is often more marked in NF1 microdeletion than in classic NF1.Intellectual disability or learning difficulties
School-age children often have trouble with reading, writing, or math, and IQ scores are often below the population average. Some have formal intellectual disability. This is one of the main reasons for long-term educational support.Speech and language problems
Speech may be late to start, unclear, or difficult to understand. Children may need speech therapy for many years. This is linked to both the NF1 gene loss and other genes affecting brain development.Behavioral and attention problems
Attention-deficit or hyperactivity symptoms, anxiety, and social difficulties are common. These problems may be stronger in microdeletion patients, making psychological support and structured school environments very important.Skeletal problems (bone anomalies and scoliosis)
People may have curvature of the spine (scoliosis), bone thinning, or long bone deformities. These problems may need orthopedic follow-up and sometimes surgery as the child grows.Cardiac defects
Some individuals have congenital heart defects or blood vessel problems. For this reason, heart ultrasound and blood pressure checks are often part of routine care.Higher risk of malignant peripheral nerve sheath tumors (MPNST)
In late adolescence or adulthood, some neurofibromas may become cancerous and turn into MPNST. This risk is higher in NF1 microdeletion than in classic NF1, so new or fast-growing painful lumps need urgent medical check-up.Other tumor risks (brain, blood, or other cancers)
People with NF1 microdeletion have increased risk for other tumors, such as optic pathway gliomas, brain tumors, and some blood cancers, compared with the general population. Regular follow-up in a specialized NF1 or genetics clinic is therefore recommended.
Diagnostic Tests
Diagnosis of Van Asperen syndrome usually needs a combination of clinical examination and genetic tests. The tests below are used by specialists to confirm the condition, look for complications, and guide follow-up.
Physical Exam Tests
General physical and growth examination
The doctor measures height, weight, and body proportions, and compares them to growth charts. Overgrowth, large hands and feet, or asymmetry can suggest NF1 microdeletion, especially when combined with skin and facial features.Head circumference and craniofacial assessment
Measurement of head size helps detect macrocephaly. The doctor also looks at facial shape, eye spacing, and jaw position to see typical dysmorphism associated with the syndrome.Detailed skin examination
The clinician counts café-au-lait spots, checks for freckling in skin folds, and looks for cutaneous and subcutaneous neurofibromas. The pattern and number of these lesions are key to recognizing NF1 and its microdeletion form.Neurological examination
Muscle tone, reflexes, strength, coordination, gait, and signs of nerve compression are checked. Abnormal findings can hint at plexiform neurofibromas, spinal tumors, or brain involvement, and guide decisions for imaging.Cardiovascular examination and blood pressure measurement
The doctor listens to the heart, checks for murmurs, and measures blood pressure. NF1 and its microdeletion forms can be associated with heart defects and blood vessel abnormalities or hypertension, so this exam is important at each visit.
Manual / Bedside Functional Tests
Developmental screening tests
Simple tools or checklists (like milestone charts) are used to see if the child is on time with motor, social, and language skills. These screenings help identify global developmental delay, which is common in NF1 microdeletion.Cognitive and IQ testing
Psychologists may do structured tests to measure IQ, attention, memory, and school-related skills. These tests show the level of intellectual disability or learning difficulty and help plan special education support.Vision tests (visual acuity and eye exam)
Simple eye-chart tests check how clearly the person sees. An eye doctor may also examine the back of the eye and optic nerve to look for optic pathway gliomas or other NF1-related eye findings.Hearing and speech assessment
Hearing tests and speech-language evaluations look for hearing loss and speech delays. This is important because communication difficulties can worsen learning and social problems if not identified early.
Laboratory and Pathological Tests
Complete blood count (CBC)
A CBC looks at red and white blood cells and platelets. It is not specific for Van Asperen syndrome but helps detect blood cancers or bone-marrow problems that can occur more often in NF1-related conditions.Basic metabolic and organ function tests
Blood tests for liver, kidney, and electrolytes help ensure organs are working well, especially before surgery or certain medications. Some NF1-related tumors or treatments can affect these organs.Hormone tests when endocrine problems are suspected
If there are signs of puberty problems, growth issues not explained by overgrowth alone, or high blood pressure, hormone tests (like cortisol, thyroid, or catecholamines) may be done to look for endocrine tumors or effects.Histopathology of neurofibromas
When a tumor is removed, a pathologist examines it under the microscope. This confirms it is a neurofibroma and checks for any signs of malignant change, especially in fast-growing or painful masses.Chromosomal microarray (array-CGH or SNP array)
This is a key test. It looks for extra or missing pieces of DNA across all chromosomes. In Van Asperen syndrome it shows a deletion at 17q11.2, often about 1.4 Mb in size, confirming a microdeletion rather than a small NF1 point mutation.MLPA (Multiplex Ligation-dependent Probe Amplification) for NF1 region
MLPA is a targeted lab test that can measure the copy number of specific exons and nearby genes. It can detect NF1 deletions and sometimes distinguish between different microdeletion types (type 1, 2, 3, or atypical).Optical genome mapping or high-resolution CNV analysis
Newer methods, such as optical genome mapping, can finely map the breakpoints and size of the NF1 deletion. They help clarify exactly which genes are missing and explain differences in severity between patients.
Electrodiagnostic Tests
Electroencephalogram (EEG)
If a child has seizures or unusual spells, an EEG records the brain’s electrical activity. NF1 and its microdeletion forms can be associated with epilepsy in some patients, and EEG helps guide treatment.Nerve conduction studies and electromyography (EMG)
When there is weakness, numbness, or pain in limbs, nerve conduction tests and EMG can check how well nerves and muscles are working. They help detect damage or compression from plexiform neurofibromas or spinal tumors.
Imaging Tests
Magnetic resonance imaging (MRI) of brain and spine
MRI uses magnets and radio waves to make detailed pictures. In Van Asperen syndrome, MRI can show brain tumors, optic pathway gliomas, spinal neurofibromas, or other structural issues. It is often used when there are neurological symptoms or vision changes.MRI or CT of body regions with suspected plexiform or internal tumors
If there is a large mass, pain, or organ dysfunction, MRI or CT of that body part can map plexiform neurofibromas and internal tumors. Imaging helps plan surgery, monitor tumor growth, and watch for signs of malignant change in high-risk patients with NF1 microdeletion.
Non-pharmacological treatments
Below are common non-drug approaches used in NF1 microdeletion / Van Asperen syndrome. Exact plans must be individualized by the treating team.
1. Multidisciplinary NF1 clinic follow-up
Regular visits to a specialized NF1 clinic (often yearly or more often in childhood) allow early detection of tumors, bone problems, blood-pressure changes, learning issues, and emotional stress. The “team visit” model saves families from many separate appointments and helps coordinate complex decisions. The mechanism is simple: structured, guideline-based surveillance reduces the chance that serious complications are missed or treated too late. [9]
2. Genetic counseling
Genetic counseling helps the family understand the cause of Van Asperen syndrome, its recurrence risk, and options such as prenatal or pre-implantation genetic testing. The purpose is informed decision-making and emotional support. Mechanistically, counseling does not change the genes but reduces anxiety, improves planning, and helps relatives recognize warning signs early. [10]
3. Early developmental intervention
Many children with NF1 microdeletion have developmental delay, low muscle tone, and learning problems. Early-intervention programs combine play-based physical, cognitive, and social activities to strengthen motor skills, language, and thinking during the most plastic brain period. This works by repeatedly stimulating neural pathways, helping the brain build alternative routes to support function. [11]
4. Physiotherapy (physical therapy)
Physiotherapists design exercises to improve muscle tone, balance, joint stability, and coordination. The purpose is to reduce clumsiness, delay or limit scoliosis progression, and support safe activity. Mechanistically, repeated, graded exercise strengthens muscles around weak joints, supports the spine, and improves posture, helping children participate better in school and play. [12]
5. Occupational therapy
Occupational therapists focus on daily skills such as dressing, handwriting, using cutlery, and school tasks. They may recommend adapted tools and strategies to cope with joint hypermobility and low tone. Mechanistically, task-specific training and environmental adaptation lower the physical effort needed, making independence more realistic and reducing frustration. [13]
6. Speech and language therapy
Some children develop speech delay, language disorders, or social communication difficulties. Speech therapists work on vocabulary, sentence structure, speech clarity, and social use of language. Repeated practice and feedback strengthen neural circuits for language, supporting better school performance and social participation. [14]
7. Special education and learning support
Many patients need individualized education plans, classroom accommodations, smaller classes, extra time in exams, or assistive technology. The goal is to match teaching methods to the child’s learning profile, making it easier to succeed despite attention or processing difficulties. Mechanistically, reducing cognitive load and distractions improves learning efficiency and self-confidence. [15]
8. Psychological therapy (including CBT)
Anxiety, low mood, body-image concerns, and uncertainty about tumors are common. Cognitive-behavioural therapy (CBT) and other evidence-based psychological therapies teach coping skills, realistic thinking, and emotional regulation. This helps reduce distress, improve adherence to medical care, and strengthen resilience. [16]
9. Social-skills and behavior training
Children with NF1 microdeletion may struggle with attention, impulsivity, or reading social cues. Group or individual training uses role-play and practice to build turn-taking, conversation skills, and problem-solving. The mechanism is repeated practice in safe settings, building behavioral “habits” that later generalize to school and friendships. [17]
10. Pain self-management programs
Chronic pain from neurofibromas, scoliosis, or nerve compression may not fully respond to medicines. Pain programs teach pacing, relaxation, gentle exercise, and distraction techniques. These approaches target the brain’s pain processing pathways, reducing the impact of pain on mood and daily life even when the underlying cause cannot be removed completely. [18]
11. Low-vision rehabilitation
If optic pathway gliomas or other problems affect sight, low-vision services assess vision, provide magnifiers, contrast tools, and orientation training. The purpose is to keep the person as independent as possible. Mechanistically, optimizing remaining vision and teaching compensation strategies can greatly reduce disability, even if visual acuity cannot be fully restored. [19]
12. Hearing assessment and support
Some patients may have hearing issues from tumors, ear infections, or other causes. Early hearing tests, hearing aids, or classroom listening systems prevent additional learning difficulties. The mechanism is straightforward: clearer sound input helps the brain develop normal language and attention networks. [20]
13. Orthopedic bracing and physical supports
Braces, shoe inserts, or spinal supports may be used for scoliosis, leg-length differences, or joint instability. These devices redistribute mechanical load, slow progression of deformities, and reduce pain, sometimes avoiding or delaying major surgery. [21]
14. Lifestyle counseling (exercise, sleep, stress)
Regular moderate exercise, good sleep routines, and stress-reduction strategies improve overall health, mood, and cardiovascular risk. In NF1, this also helps manage weight and blood pressure, which may indirectly reduce complications from tumors and vascular disease. Mechanistically, lifestyle changes influence hormonal balance, inflammation, and vascular health. [22]
15. Skin care and sun protection
People with NF1 have many skin lesions, and sunburn or injury can make them more uncomfortable. Gentle skin care, sun-protective clothing, and sunscreen help avoid damage. While not proven to reduce tumor risk, these measures protect fragile skin and improve comfort and appearance, which can support self-esteem. [23]
16. Support groups and peer networks
Patient organizations and online communities for NF1/microdeletion provide shared experiences, practical tips, and emotional support. Hearing from others with similar challenges reduces isolation and improves coping, and families can learn about new research and care standards. [24]
17. Vocational and career counseling
For older teens and adults, career guidance helps match strengths and limitations (e.g., vision, mobility, cognitive profile) to suitable study or work paths. Mechanistically, planning realistic goals and accommodations improves employment chances and life satisfaction. [25]
18. Transition planning to adult care
As young people age out of pediatric services, planned transition to adult NF1 clinics prevents gaps in surveillance. Checklists and joint visits help transfer medical history and empower the young adult to manage their own health. This process maintains continuity of care, which is critical in a lifelong tumor-risk condition. [26]
19. Fall- and injury-prevention strategies
Because of scoliosis, muscle weakness, or neurofibromas compressing nerves, some patients are more prone to falls. Home safety review, balance training, and mobility aids reduce fracture and head-injury risk. Mechanistically, lowering mechanical hazards and improving stability directly decreases accidents. [27]
20. Regular dental and orthodontic care
Jaw or facial differences and neurofibromas can affect teeth and bite. Early, regular dental and orthodontic review helps prevent cavities, gum disease, and bite problems, and can improve speech and appearance. This works through early detection and correction of structural issues in the mouth. [28]
Drug treatments
Very important: there is no single “cure” pill for Van Asperen syndrome. Medicines are used to:
Treat plexiform neurofibromas and some tumors (targeted drugs).
Manage symptoms and complications such as pain, seizures, high blood pressure, mood disorders, or ADHD.
Only a small number of drugs are directly studied for NF1 tumors; most other medicines are standard treatments for the complication (for example, using usual antihypertensive drugs for high blood pressure). [29]
Because you asked for “20 drug treatments”, but the evidence-based options specific to NF1/Van Asperen syndrome are far fewer, I will describe key, well-supported examples and explain that all dosing and choices must be decided by a specialist. I will not give exact mg doses here, as those depend on age, weight, kidney/liver function, and detailed FDA labeling.
Targeted NF1 tumor drugs
1. Selumetinib (KOSELUGO) – MEK inhibitor
Selumetinib is an oral MEK1/2 inhibitor approved by the FDA for adults and children ≥1 year with NF1 and symptomatic, inoperable plexiform neurofibromas. [30] It works by blocking part of the RAS–MAPK pathway, which is overactive when the NF1 gene is missing, slowing tumor cell growth. In trials, many children had meaningful shrinkage of plexiform neurofibromas and improved pain and function. Side effects can include diarrhea, rash, heart and eye problems, so careful monitoring is required. Dosing is calculated by body surface area according to the FDA label on accessdata.fda.gov, and must be supervised by experienced oncology/genetics teams.
2. Newer MEK inhibitor (e.g., mirdametinib / Gomekli)
A second MEK inhibitor has been approved by the FDA for children and adults with NF1 and symptomatic, inoperable plexiform neurofibromas. This oral drug also targets MEK1/2 and has shown significant tumor-volume reduction in a proportion of patients in clinical trials. [31] Its purpose is similar to selumetinib: to reduce tumor size, pain, and functional impairment when surgery is not possible. Side effects again include gastrointestinal upset, rash, and possible effects on the heart and eyes, so regular blood tests, eye exams, and heart checks are needed. The exact dosing schedule is specified in the FDA product label, and treatment is only started by NF1 tumor specialists.
Symptom- and complication-focused drugs
Below are groups of medicines commonly used to treat problems caused by Van Asperen syndrome, not the underlying deletion itself. All of them have FDA-approved labels (usually for broader indications) that can be found on accessdata.fda.gov, and all require individualized dosing by a physician.
3. Analgesics for pain (paracetamol, NSAIDs)
Mild to moderate pain from neurofibromas, scoliosis, or surgery may be treated with paracetamol (acetaminophen) or non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen. These drugs reduce pain signals and inflammation by blocking prostaglandin production. They are taken intermittently at the lowest effective dose. Major side effects can include liver toxicity (paracetamol in overdose) and stomach/kidney problems (NSAIDs), so long-term use must be monitored and combined with non-drug pain strategies where possible. [32]
4. Antihypertensive medicines
NF1 (including microdeletion) increases the risk of high blood pressure from renal artery stenosis, pheochromocytoma, or essential hypertension. Drugs such as ACE inhibitors, angiotensin-receptor blockers, beta-blockers, or calcium-channel blockers can be used to control blood pressure and reduce stroke and heart-disease risk. [33] They work by relaxing blood vessels, decreasing heart workload, or modifying hormonal signals. Side effects depend on the class and can include cough, dizziness, or electrolyte changes, so regular blood-pressure checks and blood tests are important.
5. Anti-seizure drugs (antiepileptics)
If a patient has seizures due to brain tumors, cortical malformations, or other NF1-related issues, anti-seizure medications like levetiracetam, valproate, or others may be prescribed. They stabilize electrical activity in the brain, reducing seizure frequency. Choice of drug depends on seizure type, age, sex (e.g., pregnancy issues), and other health conditions. Side effects can include tiredness, mood changes, or effects on liver and blood counts, so follow-up is necessary. [34]
6. ADHD medications (stimulants or non-stimulants)
Attention-deficit and executive-function problems are common in NF1 microdeletion. When non-drug strategies are not enough, stimulant medications (like methylphenidate) or non-stimulants (atomoxetine, guanfacine) may be used. They improve attention and impulse control by modulating dopamine and noradrenaline pathways in the brain. Side effects can include appetite loss, sleep disturbance, or mood changes, so doses are carefully titrated and monitored. [35]
7. Antidepressants / anti-anxiety medicines (e.g., SSRIs)
Living with a chronic tumor-risk condition can cause anxiety and depression. Selective serotonin reuptake inhibitors (SSRIs) and other antidepressants are sometimes used together with psychological therapy. They work by increasing serotonin or other neurotransmitters in the brain. Benefits may appear after several weeks, and side effects can include gastrointestinal upset, sleep changes, or, rarely, agitation, so medical and psychological supervision is important. [36]
8. Bisphosphonates or other bone-protective drugs (selected cases)
Some NF1 patients have low bone density or fractures. In selected older adolescents or adults, bone-protective drugs may be considered to strengthen bone by slowing bone resorption. These drugs are not NF1-specific and must be used carefully due to possible side effects (e.g., jaw problems, gastrointestinal irritation), with specialist advice. [37]
9. Antispasmodic or neuropathic-pain agents
For nerve-related pain (neuropathic pain) from tumors or surgery, medicines like gabapentinoids or certain antidepressants may be used to dampen nerve over-activity. These can reduce burning or shooting pain sensations and improve sleep. Side effects include dizziness and drowsiness, so doses are increased slowly. [38]
10. Short-term corticosteroids (specific complications)
In some acute complications, such as swelling around a tumor pressing on vital structures, short courses of steroids may be used to reduce inflammation and edema. Steroids have many side effects (weight gain, infection risk, mood changes, bone thinning), so they are used for the shortest effective time under specialist supervision. [39]
Because high-quality evidence for 20 separate, disease-specific drug regimens in Van Asperen syndrome does not exist, specialists usually combine a small number of targeted tumor drugs with standard medicines for pain, seizures, blood pressure, and mood, plus intensive non-pharmacological care.
Dietary molecular supplements
Evidence for supplements specifically in NF1 microdeletion is limited, so any supplement should only be started after discussing with the medical team. The ideas below are general and aim to support overall health.
Vitamin D – Supports bone health and immune function. Many people with chronic illness have low vitamin D, and replacing deficiency can help reduce fracture risk and improve muscle function. [40]
Calcium – Works with vitamin D to maintain strong bones and teeth, which is important where scoliosis or low bone mass may occur. Excess doses without supervision can cause kidney stones. [41]
Omega-3 fatty acids – May modestly support heart health, reduce inflammation, and help mood in some people. They work by changing cell-membrane composition and signaling molecules derived from fats. [42]
Balanced multivitamin (when diet is poor) – Provides small amounts of essential vitamins and minerals when appetite is low or diet is limited. This does not replace healthy food but helps prevent frank deficiencies that could worsen fatigue or immunity. [43]
Iron (only if deficient) – If blood tests show iron-deficiency anemia, iron supplements can restore red blood cells and energy levels. Unnecessary iron can be harmful, so testing first is essential. [44]
Vitamin B12 and folate (if low) – Important for blood formation and nervous-system function. Correcting deficiency may improve fatigue and neuropathy symptoms. Again, they should be guided by blood tests. [45]
Magnesium – Sometimes used to help muscle cramps, constipation, or sleep, under guidance. It affects many enzyme systems and nerve–muscle function. Too much can cause diarrhea or, rarely, heart rhythm problems in kidney disease. [46]
Probiotics (selected cases) – May support gut health when frequent antibiotics or stress disturb the microbiome. They aim to restore beneficial bacteria and reduce antibiotic-associated diarrhea. Evidence is moderate and strain-specific. [47]
Protein/essential amino acid supplements – Helpful if appetite is low, especially around surgery or in chronic illness. They give building blocks for muscle and tissue repair. Overuse without need can strain kidneys, so dietitian input is important. [48]
Antioxidant-rich foods or mild supplements – Emphasizing natural antioxidants from fruits, vegetables, nuts, and seeds is preferred. These nutrients help control oxidative stress, although specific benefits for NF1 microdeletion are not proven. [49]
Immune-booster, regenerative, and stem-cell drugs
Right now, there are no approved immune-booster, regenerative, or stem-cell drugs that specifically treat Van Asperen syndrome. Research is ongoing in several areas:
Further MEK inhibitors and targeted therapies for plexiform neurofibromas and other NF1-related tumors.
Gene-therapy and genome-editing approaches to correct or bypass NF1 loss (still experimental and not available in routine care).
Tumor immunotherapies for malignant peripheral nerve sheath tumors in NF1.
These approaches are being studied mainly in clinical trials. They cannot be recommended as standard “immune-boosting” or “stem-cell” treatments for this syndrome outside research settings. [50]
Surgeries
1. Surgical removal or debulking of plexiform neurofibromas
Large plexiform neurofibromas causing pain, deformity, or compression of vital structures may be removed or debulked. The goal is to relieve pressure, improve function, and reduce pain, though tumors can regrow. Surgery is complex because tumors may wrap around nerves and blood vessels, so experienced teams are essential.
2. Excision of disfiguring cutaneous neurofibromas
Multiple small neurofibromas on the skin can be removed for comfort, bleeding, or cosmetic reasons. This is often done gradually over time. While it does not change the underlying syndrome, removal can improve comfort, clothing fit, and self-image, which is especially important in adolescence.
3. Spinal surgery for severe scoliosis or spinal cord compression
If scoliosis becomes severe or tumors compress the spinal cord, orthopedic or neurosurgical procedures such as spinal fusion or decompression may be needed. The purpose is to protect the spinal cord, relieve pain, and prevent further deformity. These surgeries are major and require careful risk–benefit discussion.
4. Neurosurgery for brain or optic pathway tumors (selected cases)
Some optic gliomas or other brain tumors may require surgery or biopsy if they grow, threaten vision, or do not respond to drugs. The goal is to preserve vision and neurological function while minimizing treatment-related harm. Often, surgery is combined with drug therapy or radiotherapy depending on guidelines.
5. Surgery for NF1-related internal tumors (e.g., pheochromocytoma)
Tumors such as pheochromocytoma (adrenal tumor) or gastrointestinal stromal tumors (GIST) may need removal. Pre-operative medication (e.g., blood-pressure control) is critical in some of these tumors. The purpose is to remove the tumor, cure or control the disease, and prevent serious complications like severe hypertension or bleeding.
Prevention and risk-reduction
You cannot “prevent” the chromosome deletion once a person has it, but you can reduce the risk of serious complications:
Genetic counseling and informed reproductive planning.
Early genetic diagnosis in at-risk families to start surveillance promptly.
Regular guideline-based tumor, vision, and blood-pressure checks. [51]
Healthy weight, exercise, and not smoking to protect the heart and blood vessels.
Prompt evaluation of any rapidly growing, painful, or hard neurofibroma.
Sun protection and skin care to avoid injury and discomfort.
Limiting unnecessary ionizing radiation (e.g., avoid non-essential CT scans).
Keeping vaccinations up to date to lower infection risk around surgeries and chronic disease.
Early assessment of learning and behavior difficulties to avoid long-term school failure.
Active attention to mental health, including early support for anxiety or depression. [52]
When to see a doctor urgently
People with Van Asperen syndrome should seek urgent medical review (emergency or same-day) if they notice:
A neurofibroma that suddenly grows fast, becomes very painful, or feels hard and fixed.
New weakness, numbness, difficulty walking, or loss of bladder/bowel control.
Sudden changes in vision, double vision, or bulging of one eye.
Severe, persistent headaches, vomiting, or seizures.
Very high blood pressure readings, pounding headache, chest pain, palpitations, or sweats.
In addition, regular planned visits to the NF1 clinic (often yearly in adults and more frequently in children) are essential even when feeling well, because some complications are silent early on. [53]
Diet: what to eat and what to avoid
Diet cannot cure Van Asperen syndrome, but good nutrition supports bones, heart, immune system, and recovery from surgery.
Eat plenty of colorful fruits and vegetables – They provide vitamins, minerals, and antioxidants that support general health and may help control inflammation. Try to include different colors every day. Avoid replacing them with sugary juices. [54]
Choose whole grains instead of refined grains – Whole-grain bread, brown rice, and oats release energy slowly and support healthy weight and heart function. Try to avoid large amounts of white bread, white rice, and sugary cereals.
Include lean protein in every meal – Fish, eggs, beans, lentils, tofu, and moderate lean meat support muscle and tissue repair, especially important after surgery or when muscle tone is low. Avoid very processed meats (sausages, salami) which are high in salt and additives.
Use healthy fats – Nuts, seeds, olive or canola oil, and oily fish provide unsaturated fats that support heart and brain health. Limit deep-fried foods and snacks high in trans fats.
Take enough calcium and vitamin D (food + prescribed supplements) – Dairy products or fortified alternatives plus safe sunlight and/or supplements (if advised) protect bones, which is important in scoliosis or reduced mobility. Avoid very high, unsupervised doses. [55]
Limit sugary drinks and sweets – Too much sugar can worsen weight gain and energy swings, which may make attention and mood problems harder to manage. Prefer water, milk, or sugar-free drinks.
Control salt intake – High salt can raise blood pressure, especially in people already at risk of hypertension. Avoid heavily salted snacks, instant noodles with salty flavoring, and adding extra salt at the table. [56]
Avoid smoking and limit alcohol (for adults) – Smoking damages blood vessels and may worsen tumor and cardiovascular risks. Alcohol can interact with medicines and affect mood and sleep. For teens, avoiding alcohol and smoking altogether is safest.
Stay well-hydrated – Adequate water intake supports kidney function, bowel regularity, and overall wellbeing, especially when taking medicines that can affect kidneys or when physically less active.
Work with a dietitian for complex needs – If there are feeding problems, under- or overweight, or special needs before and after surgeries, a dietitian can design a tailored plan and use nutritional supplements safely. [57]
Frequently asked questions (FAQs)
1. Is Van Asperen syndrome the same as NF1?
It is a subtype of NF1. All people with Van Asperen syndrome meet criteria for NF1, but they have a larger chromosome 17 microdeletion that usually causes more severe features (overgrowth, facial dysmorphism, more tumors, higher MPNST risk) than typical NF1 point mutations. [58]
2. Is there a cure?
There is no cure that can replace the missing chromosome segment in routine clinical care at present. Treatment focuses on surveillance, early detection, surgery when needed, targeted drugs for plexiform neurofibromas, and strong developmental and psychosocial support. Gene-based therapies remain experimental. [59]
3. How serious is Van Asperen syndrome?
Severity is variable. On average, NF1 microdeletion patients have more complications and higher tumor risk than classic NF1, so they need close follow-up. However, many people live into adulthood, work, and have families, especially with good multidisciplinary care. [60]
4. What is the cancer risk?
The risk of malignant peripheral nerve sheath tumors and some other cancers (such as breast cancer in NF1) is higher in NF1, and microdeletion patients seem to be at particularly high risk, especially when the deletion includes the SUZ12 gene. This is why tumor-surveillance guidelines emphasize regular clinical exams and rapid evaluation of suspicious lesions. [61]
5. Can Van Asperen syndrome affect learning and behavior?
Yes. Many children have intellectual disability, language disorder, attention problems, or autism-spectrum features, more frequently and more severely than in classic NF1. Early assessment and appropriate school support make a big difference. [62]
6. What scans and tests are usually needed?
Guidelines recommend regular clinical examinations, blood-pressure checks, eye exams (especially in childhood), and imaging only when indicated by symptoms (e.g., MRI for suspected plexiform tumors or optic glioma). Some centers use whole-body MRI in higher-risk patients like microdeletion cases, but practice varies. [63]
7. Are MEK inhibitors safe long-term?
MEK inhibitors such as selumetinib can significantly shrink plexiform neurofibromas in many patients, but they also have important side effects affecting skin, gut, heart, and eyes. Long-term safety data are still growing, so treatment requires careful monitoring in expert centers, with regular eye exams and heart checks, and clear discussions of benefits and risks. [64]
8. Can children with Van Asperen syndrome play sports?
Most children are encouraged to stay active, as exercise supports mood, weight, bones, and heart health. Contact or high-risk sports may need individual advice if there are large neurofibromas, bone weakness, or spinal problems. The NF1 team and physiotherapist can suggest safe activities. [65]
9. Can someone with this syndrome have children?
Yes, many adults with NF1, including microdeletion forms, can have children. Each child has up to a 50% chance of inheriting the deletion if one parent is affected. Pre-conception counseling and prenatal or pre-implantation genetic testing may be options for some families. High-risk pregnancy care is recommended. [66]
10. Does diet change the course of the disease?
No diet can reverse the chromosome deletion, but healthy eating supports general health, recovery from operations, and management of weight and blood pressure, which indirectly influence long-term outcomes. Crash diets or extreme supplements should be avoided. [67]
11. Is school participation possible?
Yes. Many children attend mainstream school with accommodations. Others may benefit from special-education settings. Early communication between the NF1 team, parents, and school staff helps create realistic goals and support strategies. [68]
12. How often should adults be seen?
Recent European guidelines suggest that adults with NF1 should have regular clinical assessments (often every 1–3 years), with extra visits if new symptoms arise. Microdeletion patients, given their higher tumor risk, may need particularly careful surveillance. [69]
13. Can this syndrome be missed for years?
Yes. Mildly affected people or those with limited access to genetics may not be diagnosed until later, when tumors, learning problems, or family history trigger testing. Modern genetic testing (e.g., microarray or NF1 gene panels) improves detection of microdeletions and allows earlier management. [70]
14. Are vaccinations safe?
In general, routine vaccinations are strongly recommended, because chronic illness and possible surgeries make infections more risky. There are no NF1-specific contraindications to standard vaccines, but individual cases (e.g., immune problems or specific therapies) should be reviewed with the treating team. [71]
15. Where can families find reliable information and support?
National and international NF organizations, rare-disease networks, and specialist NF1 centers provide evidence-based information, support groups, and links to clinical trials. These groups often translate complex guidelines into patient-friendly language and help families connect with experienced clinicians. [72]
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 16, 2026.
