Chromosome 17q12 deletion syndrome is a rare genetic condition where a tiny piece of chromosome 17 is missing from each cell. This missing piece sits on the long arm of the chromosome at a place called “q12,” so doctors call it a 17q12 “microdeletion. Because genes are missing, organs that rely on these genes during early growth can form or work differently, especially the kidneys, urinary system, pancreas, brain, and sometimes the reproductive system.
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 microdeletion form of NF1 tends to have a more severe and complex course, management needs careful long-term follow-up in a specialist clinic, with regular checks for tumors, blood pressure, vision, growth, development, and emotional health. [2]
People with 17q12 deletion syndrome can look very different from each other. Some have serious kidney disease, diabetes, learning problems, or mental health conditions, while others have only mild issues or almost no obvious symptoms.
Doctors think this condition is rare, but it may be under-diagnosed because mild cases are easy to miss. One study in Iceland suggested about 1 in 14,500 people there have this deletion.
Other names
Many different names are used for this condition in articles and clinic letters. All of the names below describe the same basic problem: a missing piece at 17q12 on chromosome 17.
Other names (synonyms) commonly used
17q12 deletion syndrome
17q12 chromosomal microdeletion
17q12 microdeletion syndrome
17q12 recurrent deletion syndrome
Chromosome 17q12 deletion syndrome
Deletion 17q12
Recurrent genomic rearrangement in chromosome 17q12
Doctors do not have strict official “types” like Type 1 or Type 2, but in real life they often see common patterns. You can think of these as clinical “presentation types.”
Types
Kidney-dominant type – People mainly have kidney and urinary tract problems such as kidney cysts, small or poorly formed kidneys, or blockage of urine flow. Some may later develop high blood pressure or kidney failure.
Renal cysts and diabetes (RCAD) type – Kidneys have cysts and structure changes, and the person develops a special kind of early diabetes called MODY5 (maturity-onset diabetes of the young type 5). This combination is often called “renal cysts and diabetes (RCAD) syndrome.”
Neurodevelopmental / psychiatric-dominant type – Some people have stronger problems with development, learning, autism spectrum features, ADHD, anxiety, or schizophrenia, while kidney and diabetes issues are mild or absent.
Reproductive-tract-dominant type (often in females) – A few females have missing or under-developed uterus and upper vagina (Mayer-Rokitansky-Küster-Hauser syndrome) or other genital malformations as the main problem.
Mild or subtle type – Some people have the deletion but show only mild learning difficulties, mild anxiety, or subtle physical features, and they may only be diagnosed after their child is found to have the same deletion.
These “types” can overlap in the same person or in the same family, so they are just a simple way to describe common patterns, not strict labels.
Causes
Chromosome 17q12 deletion syndrome happens because one copy of the 17q12 region is missing in each cell. Normally we have two copies of each chromosome region, one from each parent. When one copy is deleted, the body has only one working copy of several important genes. This is called “haploinsufficiency” and it can disturb normal organ development.
Loss of the 17q12 region itself
The main direct cause is a microdeletion of about 1.3–1.8 million DNA “letters” at 17q12. This deleted segment contains a block of 15–19 genes, and losing them together produces the syndrome.Deletion of the HNF1B gene
A key gene inside the deleted region is HNF1B. Losing one copy of this gene is strongly linked to kidney malformations, kidney cysts, diabetes (MODY5), and sometimes liver and pancreas problems.Deletion of the LHX1 gene
Another important gene, LHX1, is thought to contribute to learning problems, behavioral and psychiatric symptoms, and uterine malformations in some females. When one copy is missing, brain and reproductive tract development may be affected.Loss of several other genes in the region
The deleted 17q12 block includes multiple other genes that are active in the kidney, brain, liver, and other organs. The mix of genes lost in each person helps explain why symptoms differ from person to person.Autosomal dominant inheritance pattern
The condition follows an autosomal dominant pattern. This means that having the deletion in only one of the two chromosome 17 copies is enough to cause the syndrome, and an affected parent has a 50% chance in each pregnancy to pass the deletion on.De novo (new) deletions in the child
In about three-quarters of cases, the deletion appears “out of the blue” in the child and is not found in either parent’s blood. This happens during the formation of egg or sperm cells, or very early after conception.Inherited deletions from an affected parent
In about one-quarter of families, the deletion is inherited from a parent who has the same 17q12 microdeletion. The parent may have clear symptoms or only mild or unnoticed features.Inherited deletions from a mildly affected or undiagnosed parent
Some parents have learning difficulties, anxiety, or mild kidney problems that were never fully explained. When their child is tested, both are found to carry the 17q12 deletion, showing that the condition can be very variable even in the same family.Germline mosaicism in a parent
Rarely, a parent’s blood test 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 deletion, even though the parents appear unaffected on routine tests.Unequal crossing-over during meiosis
During the formation of egg and sperm cells, chromosomes swap matching pieces in a process called crossing-over. Because the 17q12 area contains repeated DNA sequences, the chromosomes can mis-align, and one gets a deletion while the other gets a duplication.Non-allelic homologous recombination
The technical term for this mis-alignment between similar but not identical DNA repeats is non-allelic homologous recombination. It is the main mechanism behind recurrent 17q12 deletions and the matching 17q12 duplications.Errors in the egg cell before fertilisation
Sometimes the deletion occurs when the mother’s egg cells are being made. If that egg is later fertilised, the baby will have the 17q12 deletion in all or most cells.Errors in the sperm cell before fertilisation
The same kind of mistake can happen when the father’s sperm cells are formed, again leading to a new deletion in the child even though both parents’ chromosomes look normal in blood tests.Errors during early embryo cell division
In some cases the chromosomes break and re-join wrongly in the first few cell divisions after the egg and sperm join. This early event can still affect many or all tissues in the developing baby.Larger deletions that include the 17q12 block
A few individuals have a bigger missing segment that covers 17q12 plus extra nearby regions. These larger deletions still remove the same core 17q12 genes, but may add extra problems depending on which additional genes are missing.Smaller deletions within the 17q12 region
Some people have slightly smaller or slightly different-sized deletions within 17q12. As long as the key gene block is lost, they can show a similar clinical picture, although details of symptoms may differ.Whole-gene deletion of HNF1B as part of 17q12 loss
Many patients first come to attention with a whole-gene deletion of HNF1B. Later testing shows that this is actually part of a bigger 17q12 deletion, so the whole syndrome is present, not just isolated HNF1B disease.Additional chromosomal changes (“second hits”)
Some individuals have the 17q12 deletion plus another chromosome change. This “second hit” can make learning or health problems more severe than with the 17q12 deletion alone.Autosomal dominant transmission through several generations
In some families, the 17q12 deletion is present in several generations, with each affected person having a 50% chance of passing it on. The symptoms can range from mild to more severe in different relatives.No known environmental cause
Current evidence shows no link between the 17q12 deletion and any specific diet, infection, medication, or lifestyle factor in the parents. The deletion is seen as a random genetic event that families could not have prevented.
Symptoms
Kidney cysts and structural kidney problems
Many people with 17q12 deletion syndrome have kidneys that are shaped or built differently. They may have fluid-filled sacs called cysts, very small kidneys, poorly formed kidney tissue, horseshoe kidneys, or blockage of urine flow. These changes are often grouped under “congenital abnormalities of the kidney and urinary tract.”Reduced kidney function and risk of kidney failure
The kidney changes can slowly damage kidney function. Some people have trouble concentrating urine, high levels of certain salts like uric acid, or scarring in the kidney tissue, and a smaller number may reach chronic kidney disease or kidney failure.Early-onset diabetes (MODY5)
A common feature is a special form of diabetes called maturity-onset diabetes of the young type 5 (MODY5). It usually starts before age 25 and is caused by problems in the insulin-making cells of the pancreas, often due to loss of HNF1B.Pancreas and digestion problems
Some people have a small pancreas or reduced function of the pancreas cells that make digestive enzymes. This can lead to poor weight gain, loose stools, or vitamin deficiencies if not treated.Electrolyte problems such as low magnesium and potassium
The kidney tubules in this condition may not handle salts properly. Low magnesium (hypomagnesemia), low potassium (hypokalemia), or high uric acid are quite typical and may cause muscle cramps, tingling, or tiredness.Developmental delay
Many children sit, walk, talk, and learn skills later than expected. The delay can be mild or moderate, and early support with physiotherapy, occupational therapy, and speech therapy is often helpful.Speech and language delay
Speech delay is particularly common. Children may speak their first words late, use shorter sentences, or have trouble understanding complex language. Targeted speech and language therapy can make a big difference.Learning difficulties or intellectual disability
About half of people with 17q12 deletion have learning difficulties that can range from very mild to moderate. Some are in mainstream school with support, while others need special education.Autism spectrum features
A higher-than-usual number of individuals show autism spectrum traits, such as difficulties with social communication, restricted interests, or a strong need for routine. For some, a full autism spectrum disorder diagnosis is made.Other psychiatric conditions (schizophrenia, anxiety, bipolar disorder)
Teenagers and adults with this deletion have a higher risk of serious mental health conditions, including schizophrenia, anxiety disorders, and bipolar disorder. Not everyone develops these, but the risk is clearly higher than in the general population.Seizures and epilepsy
Some people develop seizures. These may be mild or infrequent, and seizures often respond to standard anti-seizure medicines, but they still need careful neurological assessment.Reproductive tract anomalies in females (Mayer-Rokitansky-Küster-Hauser syndrome)
A number of females with 17q12 deletion have missing or under-developed uterus and upper vagina, known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. This can cause absent periods and infertility, and is thought to be linked to loss of genes such as LHX1.Genital anomalies in males and females
Both males and females can have structural differences in their genital organs, such as undescended testes, small testes, or other malformations. These may affect fertility or hormone balance.Subtle facial and skeletal features
Many people have mild facial features like a slightly large head, high-arched eyebrows, or small differences around the eyes, as well as possible differences in the hands and feet. These features are usually subtle and do not cause medical problems.Other organ problems (liver, eyes, heart, gut, prematurity)
Some individuals have liver function abnormalities, eye problems, congenital heart defects, or gastrointestinal issues such as constipation or reflux. Babies may also be born a bit early (premature) more often than average.
Diagnostic tests
Doctors usually confirm 17q12 deletion syndrome with genetic tests and then use blood tests, scans, and clinical assessments to look for organ problems linked to the condition.
Full physical examination and medical history (physical exam)
The doctor checks height, weight, head size, blood pressure, and looks for kidney-related swelling, subtle facial features, and any signs of other organ problems. A careful family history may show relatives with kidney disease, diabetes, or learning issues.Growth measurement and plotting on charts (physical exam)
Height, weight, and head circumference are plotted over time on growth charts. This helps show if the child is growing as expected or has short stature, poor weight gain, or rapid weight gain linked to kidney or endocrine problems.Blood pressure measurement (physical exam)
Because kidney disease can cause high blood pressure, regular blood pressure checks are important. High readings may signal worsening kidney function or increased cardiovascular risk.Neurological examination (physical exam)
A neurologist or paediatrician checks muscle tone, reflexes, coordination, and movement to look for signs of seizures, motor delay, or other nervous-system problems that can occur in this syndrome.Clinical developmental assessment (physical / manual)
In early childhood, doctors and therapists watch how the child sits, walks, talks, and plays. They compare these milestones with typical ranges to spot developmental delays and guide early intervention.Standardized developmental or IQ testing (manual test)
Psychologists may use tests such as general developmental scales or IQ tests to measure thinking, problem-solving, and school-related skills. These results help plan educational support and therapies.Autism spectrum screening tools (manual test)
For children with social or communication difficulties, autism screening tools and structured observations are used to decide whether an autism spectrum disorder diagnosis is present and what support is needed.Psychiatric assessment and rating scales (manual test)
Teenagers and adults may be assessed by a psychiatrist to look for anxiety, depression, bipolar disorder, or schizophrenia. Structured interviews and rating scales help guide diagnosis and treatment.Kidney function blood tests (lab / pathological)
Blood tests for creatinine, urea, and estimated glomerular filtration rate (eGFR) show how well the kidneys are working. These tests are repeated regularly to catch falling kidney function early.Serum electrolytes, including magnesium and potassium (lab)
Blood tests for magnesium, potassium, sodium, and uric acid are important because tubulointerstitial kidney disease in this syndrome often causes low magnesium and other salt imbalances.Fasting blood glucose (lab)
A fasting blood sugar level helps screen for diabetes. In people with 17q12 deletion, regular testing is advised because of the high risk of MODY5.Oral glucose tolerance test (lab)
If fasting glucose is borderline or if symptoms suggest diabetes, an oral glucose tolerance test can show how the body handles sugar over a few hours after a sugary drink.Hemoglobin A1c (HbA1c) (lab)
HbA1c shows average blood sugar over the past 2–3 months. Annual testing is recommended to monitor for the development of diabetes and to track how well any diabetes is controlled.Urinalysis (lab / pathological)
A urine test checks for protein, blood, glucose, and other markers of kidney or urinary tract damage. Persistent protein or blood in the urine can be an early sign of kidney disease.Chromosomal microarray (CMA) (genetic lab test)
Chromosomal microarray looks for extra or missing DNA segments across all chromosomes. It is the main test used to detect the typical 1.4-Mb 17q12 deletion and confirm the diagnosis in a person with suggestive clinical features.Targeted deletion testing (FISH, qPCR, MLPA) (genetic lab test)
Once a 17q12 deletion is known in one family member, targeted tests such as FISH, quantitative PCR, or MLPA can quickly check relatives for the same deletion. These tests look only at the 17q12 region rather than scanning the whole genome.Exome or genome sequencing with CNV analysis (genetic lab test)
Some centres use exome or whole-genome sequencing that can also detect copy-number changes like the 17q12 deletion. This is useful if the diagnosis is not clear or if other genetic conditions are suspected as well.Electroencephalogram (EEG) (electrodiagnostic test)
For people who have seizures or strange episodes, an EEG records the brain’s electrical activity. It can show abnormal patterns and help guide the choice of anti-seizure medicines.Renal and urinary tract ultrasound (imaging test)
Ultrasound scanning of the kidneys and urinary tract is a key test. It can show cysts, small or poorly formed kidneys, duplicated collecting systems, hydronephrosis (swelling of the kidney from urine backup), or other structural problems.Brain and pelvic MRI (imaging tests)
Brain MRI may be done to look for structural brain changes in people with seizures, developmental problems, or psychiatric symptoms. In adolescent girls with absent periods, pelvic MRI can help confirm uterine or vaginal malformations such as MRKH syndrome.
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.
