Chromosome 17q11.2 deletion syndrome is a rare genetic condition where a small piece of chromosome 17 is missing in the area called “q11.2.” This missing piece includes the NF1 gene and several nearby genes that are important for growth, brain development, and the nervous system.
Chromosome 17q11.2 deletion syndrome (often called NF1 microdeletion syndrome) is a rare genetic condition where a small piece of chromosome 17 is missing, including the NF1 gene and some nearby genes. This deletion causes a more severe form of neurofibromatosis type 1, with café-au-lait spots, many neurofibromas, distinctive facial features, tall or short stature, learning difficulties, and higher risk of certain tumors. Symptoms usually begin in infancy or childhood and can affect the brain, nerves, skin, and growth. [1] [2]
Because this is a genetic syndrome, there is no “cure,” but many supportive treatments can improve quality of life, school performance, and function. Care is usually provided by a multidisciplinary team that may include genetics, neurology, oncology, orthopedics, ophthalmology, psychology, and rehabilitation specialists. Early diagnosis, regular monitoring, and timely treatment of complications (such as tumors, seizures, learning problems, or spinal curvature) are the main goals of management. [1] [3]
Because this chunk of DNA is gone, the body cannot make enough of certain proteins, especially the NF1 protein (neurofibromin) that helps control cell growth. As a result, people usually have a more severe form of neurofibromatosis type 1 (NF1), with many skin spots, early and many tumors called neurofibromas, facial differences, learning problems, and sometimes overgrowth and big head size.
This syndrome is also called a “contiguous gene deletion syndrome,” because several genes that sit next to each other on chromosome 17 are deleted together. It is usually inherited in an autosomal dominant way, but in many children it happens as a new (de novo) change with no family history.
Other names and types
Doctors and researchers use many different names for chromosome 17q11.2 deletion syndrome. These names all point to the same or very closely related conditions, usually involving loss of the NF1 region.
Common other names include:
17q11 deletion syndrome or 17q11 microdeletion syndrome
Chromosome 17q11.2 deletion syndrome, 1.4 Mb (1.4-Mb)
NF1 microdeletion syndrome or neurofibromatosis type 1 microdeletion syndrome
Macrocephaly, macrosomia, and facial dysmorphism syndrome (MMFD)
Overgrowth–macrocephaly–facial dysmorphism syndrome
RNF135-related overgrowth syndrome (because the RNF135 gene in this region is also deleted)
Van Asperen syndrome
Monosomy 17q11 or del(17)(q11) (cytogenetic shorthand that means a deletion at 17q11).
Types (sub-groups) are mainly based on the exact size and borders of the deleted region in 17q11.2. A very common type is the “type-1 NF1 microdeletion”, which is about 1.4 Mb in size and includes the full NF1 gene and several neighboring genes; this type is linked with a clearly severe NF1 picture.
Other described types are type-2 and type-3 recurrent deletions, which are slightly different in size and breakpoints but still include the NF1 gene region. There are also “atypical” 17q11.2 deletions that overlap part of the NF1 area or lie just next to it; these can cause similar but sometimes milder or different features.
Causes
Loss of the NF1 gene at 17q11.2
The main cause is a missing copy (deletion) of the NF1 gene, which normally makes a protein called neurofibromin that slows down cell growth. When one NF1 copy is deleted, cells grow and divide more easily, which causes many neurofibromas and other NF1-related problems.Deletion of several neighboring genes (contiguous gene deletion)
The deleted piece usually removes not only NF1 but also nearby genes such as RNF135 and others. Losing several genes together makes the condition more severe than classic NF1, and explains the overgrowth, facial shape changes, and stronger learning problems.Non-allelic homologous recombination (NAHR)
The chromosome 17q11.2 region contains repeated DNA blocks (low-copy repeats). During egg or sperm formation, these repeats can line up wrongly and swap pieces, leading to a 1.4-Mb deletion of the NF1 region through a process called NAHR.Recurrent “type-1” 1.4-Mb deletion
Many patients have the same common 1.4-Mb “type-1” deletion, which removes NF1 and a fixed set of neighboring genes. This recurrent deletion is a main genetic cause of chromosome 17q11.2 deletion syndrome.Other recurrent deletions (type-2 and type-3)
Some people carry slightly different but overlapping deletions called type-2 or type-3. These also include NF1 and nearby genes and cause a similar syndrome, although the exact clinical picture may show small differences.Atypical microdeletions around NF1
In a few cases, the deletion does not follow the typical pattern and is shorter or shifted, but still disrupts NF1 and other genes. These atypical microdeletions can still cause developmental delay, facial differences, and NF1-like features.Autosomal dominant inheritance from an affected parent
If a parent already has the 17q11.2 deletion, each child has a 50% chance to inherit the same deletion. This autosomal dominant pattern is a cause of familial cases of this syndrome.De novo (new) deletion in the child
In many families, neither parent has NF1 microdeletion. The deletion appears for the first time in the child because of an error during egg or sperm formation. These de novo events are a common cause of rare microdeletion syndromes.Contiguous gene effects on growth (RNF135 and others)
Deletion of RNF135 and some other genes in the region is thought to contribute to tall stature, big head size, and facial shape changes that are characteristic of this syndrome.Increased dosage sensitivity (haploinsufficiency)
The NF1 region has “dosage-sensitive” genes, meaning one working copy is not enough for normal function. When one copy is deleted (haploinsufficiency), nerve cells and other tissues cannot work normally, which causes the clinical features.Chromosome architecture that promotes breaks
The presence of large repeated DNA sequences (NF1-REPs) in 17q11.2 makes this chromosome segment unstable during cell division. This architecture is itself a cause, because it makes deletions more likely to happen in this exact spot.Errors during meiosis (making eggs and sperm)
During meiosis, chromosomes pair and exchange pieces. In 17q11.2, mis-pairing and unequal crossing-over can remove the NF1 region. These division errors are a direct biological cause of many microdeletions.Complex rearrangements involving 17q11.2
In rare cases, a person may have a larger or more complex chromosome rearrangement, such as a translocation, that also deletes 17q11.2. The deletion piece of this complex event can still cause the typical microdeletion syndrome features.Second hits in tumor-related cells
For tumors to form, the remaining NF1 copy in certain cells can also be damaged (“second hit”). The original deletion puts every cell at risk for a second hit, which explains the early and numerous neurofibromas and higher tumor risk.Interaction of NF1 loss with brain development
The NF1 gene helps regulate pathways important for brain growth and wiring. Deletion of NF1 plus other nearby genes affects how brain cells grow and connect, causing intellectual disability and learning problems.Effects on skeletal and heart development genes
Some genes in the deleted region are expressed in bone and heart tissues. Their loss contributes to scoliosis (curved spine), bone cysts, and congenital heart problems that are seen more often in NF1 microdeletion patients.Greater tumor risk because more genes are missing
The combined loss of several tumor-related genes makes tumor risk higher than in classic NF1. This explains why people with 17q11.2 deletions often have earlier and more numerous neurofibromas and a higher chance of malignant tumors.Genetic modifiers elsewhere in the genome
Once the 17q11.2 deletion is present, other small DNA differences in the person’s genome can modify how severe the symptoms are. These modifier genes do not cause the syndrome alone, but they influence how the main deletion shows itself.Autosomal dominant recurrence risk in families
When a person with this deletion becomes a parent, each pregnancy has a 50% chance of inheriting the same deletion. This transmission pattern is a genetic cause for more than one affected family member.Unknown and non-genetic factors
For most families, there is no known lifestyle or environmental cause. Research has not shown clear links with diet, infections, or usual pregnancy factors, so the main cause remains a random or inherited genetic deletion at 17q11.2.
Symptoms
Developmental delay
Many children sit, walk, talk, and learn new skills later than other children of the same age. This is because brain development is affected by the missing genes in the 17q11.2 region.Intellectual disability or learning difficulties
School-age children may have trouble with reading, writing, math, memory, and problem-solving. Some have mild learning problems, while others have more serious intellectual disability.Tall stature and overgrowth (macrosomia)
Many children are taller and larger than expected for their age and family background. This body overgrowth is linked with loss of growth-related genes in the deleted region.Large head size (macrocephaly)
The head may measure above the usual range on growth charts. This larger head size is a typical feature in 17q11.2 deletion syndrome.Facial dysmorphism (unusual facial features)
Children may have a coarse face, broad forehead, wide-spaced eyes, full lips, or other subtle facial differences. These features help doctors suspect a microdeletion syndrome.Café-au-lait spots and skin freckling
Light-brown skin patches (café-au-lait macules) and freckles in skin folds such as the armpits and groin are common, just like in NF1. They often appear in early childhood.Multiple cutaneous and subcutaneous neurofibromas
Soft, small, benign tumors (neurofibromas) develop on or under the skin. In microdeletion patients, they tend to be more numerous and appear earlier than in people with usual NF1 mutations.Plexiform neurofibromas
Some people develop larger, deeper nerve tumors called plexiform neurofibromas, which can cause pain, weakness, or changes in appearance. These tumors are also more frequent in NF1 microdeletion cases.Higher risk of malignant tumors
There is an increased chance of certain cancers, such as malignant peripheral nerve sheath tumors and other NF1-related tumors. This risk is higher than in classic NF1 and needs close medical follow-up.Scoliosis and other skeletal problems
The spine may curve (scoliosis), and some children have bone cysts or other bone changes. These skeletal issues are reported more often in patients with 17q11.2 deletions.Behavioral and emotional problems
Attention-deficit, hyperactivity, anxiety, or autistic-like behaviors can occur. These difficulties often add to school and social challenges.Speech and language delay
Children may speak late, have a small vocabulary, or struggle to form sentences. They may also have trouble understanding complex language instructions.Eye problems (including optic pathway tumors)
Some patients develop optic pathway gliomas and other eye problems, which can affect vision if not monitored. Eye screening is therefore important in people with this syndrome.Heart and blood vessel anomalies
A few patients have congenital heart defects or blood vessel problems. These may be silent at first and found only on targeted heart checks.Kidney and other organ involvement
Kidney abnormalities and problems in other organs (such as endocrine or nervous system issues) have been reported, reflecting the wide effect of the deletion on body systems.
Diagnostic tests
Physical exam tests
General physical and growth examination
The doctor measures height, weight, and head size and compares them with normal growth charts. Tall stature, big head size, and overall overgrowth can raise suspicion for chromosome 17q11.2 deletion syndrome.Detailed skin examination
The skin is checked from head to toe for café-au-lait spots, freckles in skin folds, and soft bumps that may be neurofibromas. A large number of these signs, especially early in life, points toward NF1 and NF1 microdeletion.Facial and head examination
The clinician looks for macrocephaly and subtle facial differences, such as wide-spaced eyes or coarse features. These dysmorphic signs, together with overgrowth, are typical clues to 17q11.2 deletion syndrome.Neurological examination
Strength, reflexes, sensation, balance, and coordination are tested. Weakness, abnormal reflexes, or coordination problems may reflect nerve or brain involvement due to the deletion and its NF1-related changes.Musculoskeletal and spine examination
The back, limbs, and joints are examined for scoliosis, deformities, and joint movement limits. Visible spine curvature or bone changes can trigger imaging to look for skeletal problems common in this syndrome.
Manual and clinical function tests
Developmental milestone screening
Simple tools and checklists are used to see when the child sat, walked, talked, and learned skills. Delays in several areas of development support the suspicion of a chromosomal microdeletion affecting brain growth.Formal cognitive and learning assessment
Psychologists use structured tests to check IQ, attention, memory, and school abilities. These tests help define the level of intellectual disability or learning problems, which are common in 17q11.2 deletion syndrome.Behavioral and psychiatric evaluation
Specialized questionnaires and interviews look for attention-deficit, hyperactivity, anxiety, and autistic-like behaviors. This evaluation helps plan support for behavior and emotional needs caused by the syndrome.Manual vision testing
Simple tests like reading eye charts and checking side vision are done in clinic. Poor vision or abnormal findings may lead to more detailed eye tests or imaging for optic pathway tumors.Hearing screening and audiologic tests
Basic screening is followed by formal hearing tests if needed. Hearing problems, though not the main feature, can add to learning difficulties and should be identified early.
Lab and pathological/genetic tests
Chromosomal microarray (CMA)
CMA is a key lab test that looks for tiny gains or losses of DNA across all chromosomes. It can clearly show a deletion at 17q11.2 and measure its size, confirming a microdeletion syndrome.MLPA for the NF1 region
Multiplex ligation-dependent probe amplification (MLPA) is a targeted test that checks copy number of specific exons in the NF1 gene and nearby genes. It can detect deletions of the whole NF1 gene or larger deletions covering the region.Targeted NF1 gene sequencing with copy-number analysis
Next-generation sequencing can read the NF1 gene letter by letter and also see if big chunks are missing. In NF1 microdeletion syndrome, this testing often shows that the entire gene and neighboring genes are deleted instead of a small point change.Fluorescence in situ hybridization (FISH) for 17q11.2
FISH uses fluorescent probes that stick to the 17q11.2 region. Under the microscope, missing signals on one chromosome 17 confirm that a deletion is present in that area.Conventional karyotype analysis
A standard chromosome picture (karyotype) may look normal because the deletion is small, but sometimes can show bigger or complex rearrangements that also remove 17q11.2. It is often used together with more sensitive tests like CMA.
Electrodiagnostic tests
Electroencephalogram (EEG)
If a person has seizures or unusual spells, an EEG records the brain’s electrical activity. Abnormal patterns help diagnose epilepsy, which may sometimes occur due to brain changes in chromosomal microdeletion syndromes.Nerve conduction studies and electromyography (EMG)
These tests measure how fast and how well nerves and muscles work. They can be useful if large neurofibromas compress nerves or if there is weakness, numbness, or pain related to nerve involvement.Electrocardiogram (ECG)
An ECG records the heart’s electrical activity and rhythm. It is often part of the check-up when congenital heart disease or other cardiac problems are suspected in patients with NF1-related microdeletion syndromes.
Imaging tests
Brain and orbit MRI
Magnetic resonance imaging (MRI) of the brain and eye area can show optic pathway gliomas, other brain tumors, or structural changes. This imaging is important when there are vision problems, seizures, or other neurological signs.Spine X-rays and whole-body or regional MRI
X-rays of the spine check for scoliosis and bone deformities, while MRIs of the spine, chest, or whole body can reveal deep plexiform neurofibromas and other internal tumors. These imaging tests guide treatment and long-term monitoring.
Non-pharmacological Treatments (Therapies and Other Approaches)
Early intervention and developmental therapy
Early intervention programs provide structured help for babies and toddlers with delays in sitting, walking, speech, and social skills. A team may include physiotherapists, speech therapists, and special educators who design playful exercises to build motor and communication abilities. The purpose is to support the child’s brain during its most plastic period, when it can adapt and grow new connections. The main mechanism is repeated, guided practice that strengthens the neural circuits for movement, speech, and learning. [1] [4]Individualized special education plans
Children with this deletion often have learning disabilities, attention problems, or developmental delay. Schools can create an Individualized Education Plan (IEP) with extra time on tests, simplified instructions, smaller classes, or classroom aides. The purpose is to reduce academic stress and give the brain more time to process information. The mechanism is environmental adaptation: changing teaching style and workload so that the student’s attention, memory, and executive skills are supported rather than overwhelmed. [2] [4]Speech and language therapy
Delayed speech and language are common. Speech-language therapists work on understanding words, using sentences, pronunciation, and social communication (like turn-taking and conversation). The purpose is to improve communication and reduce frustration. Mechanistically, repeated structured practice reshapes language networks in the brain, improves mouth and tongue coordination, and teaches strategies such as using gestures or pictures when words are hard to find. [2] [5]Occupational therapy (OT)
OT focuses on fine motor skills, hand–eye coordination, daily living tasks (dressing, feeding, writing), and sensory issues. The purpose is to help children function more independently at home and school. The mechanism includes graded practice of tasks, sensory integration activities to calm over- or under-responsiveness, and adaptive tools (special grips, modified utensils) that compensate for poor motor control or coordination. [3] [5]Physiotherapy (physical therapy)
Physiotherapists help with gross motor skills such as walking, running, balance, and posture. In this syndrome, children may have low muscle tone, clumsiness, or spinal curvature. The purpose is to strengthen muscles, protect joints, and reduce pain or fatigue. Mechanistically, targeted exercises improve muscle strength, joint stability, and balance, and can reduce secondary problems like contractures and deconditioning from inactivity. [3] [6]Behavioral therapy for ADHD and autism features
Many children show attention-deficit/hyperactivity disorder (ADHD) symptoms, autistic traits, anxiety, or emotional dysregulation. Behavioral therapies (such as parent training, CBT, and applied behavior analysis in some settings) teach coping skills, routines, and positive reinforcement techniques. The purpose is to reduce disruptive behaviors and improve focus. The mechanism is learning new behavior patterns and replacing unhelpful habits with more adaptive responses through consistent rewards and clear structure. [4] [6]Psychological counseling and family support
Living with a chronic genetic syndrome can be stressful for the child and family. Counseling offers a safe space to discuss fears, mood problems, and medical stress. The purpose is to reduce anxiety and depression and improve overall resilience. The mechanism involves psychoeducation, problem-solving, stress-reduction techniques, and supportive listening, which together reduce emotional overload and improve coping. [4] [7]Social skills training
Some children struggle with friendships, reading social cues, or managing group situations. Social skills groups or individual training teach turn-taking, sharing, recognizing emotions, and conflict resolution. The purpose is to improve peer relationships and self-confidence. The mechanism uses role-play, modeling, and feedback to build social “scripts,” helping the child predict social outcomes and respond more appropriately. [5] [7]Vision and hearing rehabilitation
NF1-related eye issues (such as optic pathway gliomas) and other problems can affect vision, while some children may also have hearing difficulties. Low-vision aids, glasses, and hearing aids or classroom sound systems can be used when needed. The purpose is to maximize sensory input to support learning and safety. The mechanism is simple: clearer sight and hearing improve brain access to information, which boosts development and communication. [5] [8]Sleep hygiene interventions
Sleep problems, including difficulty falling asleep or staying asleep, can worsen behavior and learning. Non-drug approaches include consistent bedtimes, relaxing routines, limiting screens, and optimizing bedroom environment. The purpose is to improve sleep quantity and quality. Mechanistically, these steps strengthen the body’s circadian rhythm and reduce brain hyper-arousal, leading to better daytime attention and mood. [6] [8]Pain and fatigue management (non-drug)
Chronic pain from neurofibromas, orthopedic issues, or headaches can occur. Relaxation, mindfulness, gentle stretching, heat/cold, pacing activities, and graded exercise programs can help. The purpose is to keep the child active while limiting flare-ups. The mechanism is desensitizing pain pathways, improving muscle conditioning, and teaching the brain to interpret pain signals in a less alarming way. [6] [9]Assistive technology for learning
Laptops, tablets, speech-to-text software, audiobooks, and visual organizers can bypass some learning barriers. The purpose is to let the child show what they know without being blocked by handwriting difficulties, slow reading, or working-memory limits. Mechanistically, assistive tech offloads some cognitive load from weak systems (like fine motor skills), making schoolwork more manageable and less tiring. [7] [9]Nutritional counseling
Some children may be underweight due to poor appetite, high energy needs, or medication effects, while others may struggle with overweight. A dietitian can design balanced meal plans with appropriate calories and nutrients. The purpose is to support growth, immunity, and energy. The mechanism is optimizing intake of proteins, healthy fats, vitamins, and minerals, which are essential for brain development, bone health, and tissue repair. [7] [10]Regular multidisciplinary clinic follow-up
NF1 microdeletion requires long-term monitoring for tumors, blood pressure, spine changes, and learning issues. Attending a dedicated NF1 or genetics clinic allows coordinated care and early detection of complications. The purpose is prevention and early treatment rather than crisis management. Mechanistically, periodic exams and imaging catch problems when they are smaller, easier to treat, and less likely to cause permanent damage. [8] [10]Genetic counseling for family planning
Genetic counselors explain inheritance (usually autosomal dominant), recurrence risk, and options such as prenatal testing. The purpose is to give families clear information and emotional support when making reproductive decisions. The mechanism is education plus non-directive counseling, helping families understand probabilities and available tests so they can choose what fits their values. [8] [1]Vocational training and transition planning
As teens grow older, planning for work or further education becomes important. Vocational rehabilitation services teach job skills, interview practice, and workplace adaptations. The purpose is to improve independence and employability. Mechanistically, structured coaching and real-world practice build confidence, executive skills, and realistic expectations about strengths and needed supports. [9] [2]Environmental adaptations at home and school
Simple environmental changes—like clear labels, visual schedules, decluttering, grab bars, ramps, or ergonomic desks—can reduce accidents and confusion. The purpose is to make everyday tasks easier and safer. The mechanism is reducing physical and cognitive demands, so the child’s limited attention and coordination are not constantly overloaded. [9] [3]Physical activity and adapted sports
Regular, enjoyable exercise (walking, swimming, adaptive sports) supports heart health, mood, and bone strength. The purpose is to counteract deconditioning and social isolation. Mechanistically, exercise improves blood flow to the brain, releases mood-boosting chemicals, and strengthens muscles and bones, helping the child tolerate daily activities better. [10] [3]Support groups and peer networks
Connecting with other families and patients who live with NF1 or this deletion syndrome can reduce feelings of loneliness and fear. The purpose is emotional support and sharing practical tips. The mechanism is social learning: hearing others’ coping strategies, normalizing emotions, and feeling understood, which all reduce stress and boost resilience. [10] [4]Educational and medical advocacy
Families often need to advocate for appropriate school supports or timely medical referrals. Advocacy training teaches parents how to communicate with schools, insurers, and healthcare teams. The purpose is to ensure the child receives the services they are entitled to. Mechanistically, better communication and documentation lead to earlier interventions and fewer gaps in care. [10] [5]
Drug Treatments
Warning: Drug names and example dose ranges here come from FDA-approved labels or standard references, but they are general. Real doses must be chosen and adjusted only by the treating physician. Never use this list to self-medicate. [1]
Selumetinib (KOSELUGO – MEK inhibitor)
Selumetinib is an oral targeted drug approved for adults and children ≥1 year with NF1 who have symptomatic, inoperable plexiform neurofibromas, which are deep, often painful tumors along nerves. The purpose is to shrink or stabilize these tumors and reduce pain or functional problems. According to the FDA label, dosing is based on body-surface area (mg/m² twice daily), taken on an empty stomach, and adjusted for side effects. The main mechanism is blocking MEK in the RAS/RAF/MEK/ERK pathway, which is overactive when NF1 is missing, and common side effects include diarrhea, skin rash, eye problems, and heart function changes. [1] [6]Mirdametinib (Gomekli – MEK inhibitor)
Mirdametinib is a newer oral MEK inhibitor approved for children and adults with NF1 and symptomatic, inoperable plexiform neurofibromas. The purpose is similar to selumetinib: to reduce tumor volume and symptoms without surgery. Doses are weight-based and given in capsules or dissolvable tablets, as guided by the oncologist. Mechanistically, it also blocks MEK1/MEK2 signaling, slowing tumor-cell growth. Common side effects include skin rash, gastrointestinal upset, and potential heart and eye effects that require regular monitoring. [2] [6]Methylphenidate (e.g., Ritalin, Ritalin LA, Concerta – stimulant for ADHD)
Methylphenidate is a central nervous system stimulant used for ADHD, which is common in children with NF1-related conditions. The purpose is to improve attention, impulse control, and school performance. FDA labels describe starting at low doses (for example, a once-daily morning dose for long-acting products) and slowly increasing under medical supervision. The mechanism is increasing dopamine and norepinephrine in brain areas that control focus and behavior. Side effects may include appetite loss, trouble sleeping, increased heart rate, and mood changes. [2] [7]Atomoxetine (Strattera – non-stimulant for ADHD)
Atomoxetine is a non-stimulant ADHD medicine used when stimulants are not effective or not tolerated. The purpose is to improve attention and reduce hyperactivity without the same abuse potential as stimulants. The FDA label recommends weight-based dosing once or twice daily, titrated slowly. Mechanistically, it selectively blocks norepinephrine reuptake, increasing this neurotransmitter in the prefrontal cortex. Side effects can include stomach upset, decreased appetite, sleep disturbance, and rare mood or suicidal-thought warnings, so careful monitoring is needed. [3] [7]Valproic acid / valproate (Depakene, Depacon – antiseizure)
Some patients have seizures, and valproate is one possible antiseizure medicine. The purpose is to prevent seizures and protect the brain from repeated electrical storms. The FDA label typically suggests starting at a low mg/kg/day dose divided into several doses and adjusting based on blood levels and response. Mechanistically, valproate increases GABA and stabilizes neuronal membranes. Side effects can include weight gain, tremor, liver toxicity, pancreatitis, and major pregnancy risks, so it must be used with strict monitoring. [3] [8]Levetiracetam (Keppra – antiseizure)
Levetiracetam is another common seizure medicine with fewer drug interactions. The purpose is to control seizures that may occur due to brain tumors or structural changes. Dosing is weight-based, usually given twice daily and slowly titrated. Its mechanism involves binding to synaptic vesicle protein SV2A, which modulates neurotransmitter release and reduces abnormal firing. Side effects may include tiredness, irritability, or mood changes, but it avoids some liver and metabolic issues seen with older drugs. [4] [8]Lamotrigine (Lamictal – antiseizure and mood stabilizer)
Lamotrigine can treat focal or generalized seizures and sometimes mood symptoms. The purpose is seizure control and mood stabilization in selected patients. Doses start extremely low and are increased slowly over weeks to avoid severe skin reactions. Mechanistically, it blocks sodium channels and stabilizes neuronal membranes, reducing excessive firing. Side effects include dizziness, rash, and rarely life-threatening skin reactions (Stevens–Johnson syndrome), so any new rash must be urgently assessed. [4] [9]Sertraline (Zoloft – SSRI antidepressant/anxiolytic)
Children and adults with this deletion may have anxiety or depression. Sertraline, an SSRI, can be used when psychological therapies alone are not enough. The purpose is to improve mood, reduce anxiety, and support daily functioning. FDA labels describe starting with a low dose and increasing slowly while monitoring. The mechanism is blocking serotonin reuptake, increasing serotonin availability in brain synapses. Side effects can include nausea, sleep changes, sexual side effects, and rare suicidal-thought warnings in young people. [5] [9]Fluoxetine (Prozac – SSRI)
Fluoxetine is another SSRI sometimes used for anxiety, obsessive behaviors, or depression in neurodevelopmental disorders. The purpose is similar to sertraline but with a longer half-life, which helps with missed doses but makes side effects last longer. Doses are usually low at the start and increased slowly. Mechanistically, it also blocks serotonin reuptake. Side effects include gastrointestinal upset, sleep disturbance, and behavior activation in some children, so close follow-up is essential. [5] [10]Guanfacine (immediate- or extended-release – alpha-2 agonist)
Guanfacine is often used for ADHD symptoms, impulsivity, and sleep difficulties. The purpose is to calm hyperactivity and improve attention, especially when stimulants are not ideal. It works by stimulating alpha-2 receptors in the brain, which reduces sympathetic activity and improves prefrontal control circuits. Doses are weight-based and titrated carefully to avoid low blood pressure or excessive sleepiness. Side effects can include dizziness, fatigue, and dry mouth. [6] [10]Clonidine (alpha-2 agonist)
Clonidine is similar to guanfacine and may help with hyperactivity, tics, or sleep. The purpose is to reduce agitation and improve rest. Mechanistically, it also dampens noradrenergic activity in the brain, lowering arousal levels. Dosing starts low and is given at bedtime or divided over the day. Side effects include low blood pressure, dizziness, and daytime sleepiness, especially if doses are increased too quickly. [6] [1]Gabapentin (for neuropathic pain)
Large plexiform neurofibromas or nerve involvement can cause chronic neuropathic pain. Gabapentin is used to reduce this burning or tingling pain. The purpose is to improve comfort and allow better sleep and activity. It binds to alpha-2-delta subunits of calcium channels, reducing release of pain-related neurotransmitters. Doses are gradually increased to balance benefit and side effects like dizziness, drowsiness, or swelling. [7] [2]Non-opioid analgesics (paracetamol/acetaminophen, NSAIDs)
Simple pain relievers are often used as first-line treatments for headaches, musculoskeletal pain, or post-surgical pain. The purpose is to relieve mild to moderate pain without heavy sedating drugs. Acetaminophen works mainly in the central nervous system, while NSAIDs (like ibuprofen) reduce inflammation by blocking COX enzymes. Side effects of NSAIDs include stomach irritation and kidney effects, and dosing must be carefully calculated for children. [7] [3]Antihypertensive drugs (ACE inhibitors or beta-blockers)
Some individuals with NF1-related conditions develop high blood pressure from kidney artery narrowing or other vascular issues. Medicines like enalapril (ACE inhibitor) or propranolol (beta-blocker) may be used. The purpose is to control blood pressure and protect the heart, kidneys, and brain. Mechanisms include blocking hormonal pathways that tighten blood vessels or slowing heart rate. Side effects vary but may include cough (ACE inhibitors), fatigue, or dizziness. [8] [3]Bisphosphonates (for severe bone fragility, specialist use)
If a patient has severe osteoporosis or bone fragility, a specialist might consider bisphosphonates such as pamidronate. The purpose is to strengthen bones and reduce fracture risk. These drugs bind to bone mineral and slow the activity of bone-resorbing cells (osteoclasts). Side effects can include flu-like reactions after infusions, low calcium, and very rare jaw problems, so they are used cautiously and with dental and lab monitoring. [8] [4]Proton-pump inhibitors (PPIs) for reflux or medication-induced stomach issues
Some medications or stress can lead to reflux or stomach irritation. PPIs (like omeprazole) reduce acid production. The purpose is to relieve symptoms and prevent ulcers, especially when NSAIDs are needed. Mechanistically, they block the proton pumps in stomach lining cells that secrete acid. Side effects can include diarrhea, headache, and, with very long use, mineral deficiencies, so the lowest effective dose for the shortest time is preferred. [9] [4]Melatonin (for sleep – technically a hormone medication)
Melatonin is sometimes used when behavioral sleep strategies are not enough. The purpose is to help regulate the body clock and shorten time to fall asleep. It works by signaling to the brain’s circadian center that it is “night,” improving sleep onset. Doses are small and given before bedtime; side effects are usually mild (morning sleepiness, vivid dreams), but long-term safety should still be monitored by a physician. [9] [5]Antiemetics (for chemotherapy- or drug-related nausea)
When children receive chemotherapy or certain targeted drugs, nausea can be a problem. Antiemetics such as ondansetron are used to prevent or treat this symptom. The purpose is to keep nutrition adequate and make treatment tolerable. Mechanistically, ondansetron blocks serotonin 5-HT3 receptors in the gut and brain that trigger vomiting. Side effects may include constipation, headache, or rare rhythm changes in the heart. [10] [5]Standard chemotherapy agents (e.g., carboplatin and vincristine)
If tumors like optic pathway gliomas or malignant peripheral nerve sheath tumors develop, oncologists may use chemotherapy combinations such as carboplatin and vincristine. The purpose is to shrink or control cancer or threatening tumors. These medicines work by damaging DNA or disrupting cell division, affecting rapidly dividing tumor cells but also some normal cells. Side effects can include lowered blood counts, infection risk, neuropathy, and hair loss, so treatment is closely monitored in specialized centers. [10] [6]Other targeted or trial drugs (clinical-trial-based)
From time to time, patients may be offered other targeted therapies or investigational drugs in clinical trials. The purpose is to test new ways to shrink tumors or improve cognitive symptoms. Mechanisms vary (targeting other pathways downstream of NF1). Side effects and dosing are strictly controlled by trial protocols. Families should discuss risks and benefits with their care team and understand that trial drugs are experimental, not standard therapy. [10] [6]
Dietary Molecular Supplements
Always discuss supplements with your doctor or pharmacist; they can interact with medicines or be unsafe at certain ages. [1]
Vitamin D – Supports bone health and immune function, which is important in children with low activity or on certain medicines. Typical doses follow national guidelines and blood levels, often once daily. It works by helping the body absorb calcium and maintaining bone mineralization. Too much can cause high calcium and kidney problems, so testing and medical supervision are needed. [1]
Calcium – Ensures bones have enough building material, especially when mobility is limited or on bone-affecting drugs. Doses depend on age and dietary intake. It supports the mineral structure of bones and teeth. Excess calcium can cause constipation, kidney stones, or interfere with other minerals, so diet and supplements must be balanced. [2]
Omega-3 fatty acids (fish oil or algae oil) – May support brain health, attention, and mood in some children. Doses are usually based on EPA/DHA content and adjusted for age and weight. They work by being incorporated into cell membranes and modulating inflammatory pathways and neurotransmission. Side effects can include fishy taste, mild stomach upset, and blood-thinning effects at high doses. [2]
B-complex vitamins (including B6, B9/folate, B12) – Support energy metabolism and nervous system function. Doses are usually at or slightly above recommended dietary allowances. Mechanistically, B vitamins act as cofactors in many brain chemical reactions and red blood cell production. Too much of some B vitamins (like B6) can cause nerve issues, so balanced formulations are preferred. [3]
Magnesium – Sometimes used for muscle cramps, constipation, or sleep support. Doses are age-appropriate and limited to avoid diarrhea. Magnesium is involved in hundreds of enzymatic reactions, including nerve function and muscle contraction. Excess supplementation can cause loose stools, abdominal pain, and, in kidney disease, dangerous high magnesium levels. [3]
Probiotics – May help gut comfort and antibiotic-associated diarrhea, which can affect nutrition and medication tolerance. Doses are given as colony-forming units (CFUs) once or twice daily for limited periods. Proposed mechanisms include balancing gut microbiota and modulating immune responses. Evidence is still emerging, and strains must be chosen carefully; immunocompromised patients need special caution. [4]
Multivitamin with minerals – A simple multivitamin may be used when appetite is poor or diet is limited. Doses are usually one age-appropriate tablet or liquid daily. The mechanism is covering small nutritional gaps so that vitamins and minerals needed for growth and immune function are available. Over-supplementation with multiple overlapping products should be avoided, as fat-soluble vitamins can accumulate. [4]
Protein supplements (e.g., whey or plant-based) – Useful when children are underweight or need extra calories and protein for growth or after surgery. Doses are calculated by a dietitian to match total daily protein targets. Mechanistically, amino acids provide building blocks for muscle, enzymes, and immune cells. Excess protein without adequate fluids can strain the kidneys, so balance is essential. [5]
Antioxidant-rich foods or supplements (e.g., vitamin C, mixed antioxidants) – Some families are interested in antioxidant support to protect cells from oxidative stress. It is safer to focus first on whole fruits and vegetables. Supplements should not exceed recommended doses because very high doses can cause stomach upset or interact with chemotherapy. The mechanism is neutralizing free radicals, but strong clinical evidence specific to this syndrome is limited. [5]
Folate and iron (if deficient) – If blood tests show anemia or deficiency, folate or iron may be prescribed. Doses are based on lab values and age. Iron supports red blood cell production, while folate is important for DNA synthesis. Side effects of iron include constipation and stomach discomfort, so doses must be customized and monitored. [6]
Immune-Boosting, Regenerative, and Stem-Cell-Related Drugs
There are no specific, widely approved “stem cell drugs” for chromosome 17q11.2 deletion syndrome. The items below describe general approaches that may be used in special situations or research, not routine care. [1]
Hematopoietic stem cell transplantation (HSCT – procedure, not routine drug)
HSCT replaces the blood-forming system with donor stem cells and is used mainly for blood cancers or severe immune problems, not routinely for NF1 microdeletion. The purpose would be to treat a serious blood-related complication if it appears. It works by allowing donor stem cells to repopulate blood and immune cells. Risks include infections, graft-versus-host disease, and organ toxicity, so it is reserved for life-threatening conditions. [1]Growth hormone therapy (for proven growth hormone deficiency)
If a child has documented growth hormone deficiency, endocrinologists may prescribe recombinant growth hormone. The purpose is to normalize height velocity and improve body composition. It works by stimulating growth plates in bones and protein synthesis. Doses are weight- or surface-area-based injections given daily. Because of the tumor risk in NF1-related conditions, treatment decisions are complex and require oncology and endocrine input. [2]Erythropoiesis-stimulating agents (ESAs) in special anemia settings
If significant anemia develops due to chemotherapy or chronic illness, ESAs may be considered to stimulate red blood cell production. The purpose is to reduce transfusion needs. These agents act on the bone marrow to increase RBC production. They are given by injection with careful monitoring of hemoglobin levels, blood pressure, and thrombotic risk, and are not specific therapy for the deletion itself. [2]Immunoglobulin therapy (IVIG) in specific immune problems
Should a patient with this syndrome develop a separate immune deficiency or autoimmune condition, IVIG might be used. The purpose is either to replace missing antibodies or to modulate an overactive immune system. It works by supplying pooled antibodies and altering immune signaling. It is given by infusion at calculated doses and can cause headaches, infusion reactions, or, rarely, serious complications, so it is used only when clearly indicated. [3]Experimental cell-based or gene-targeted therapies (research stage)
Research in NF1 and related conditions is exploring gene-editing, gene-replacement, or cell-based repair strategies. The purpose of these experimental approaches is to correct or bypass the genetic defect. Mechanisms may include CRISPR-based editing or delivering healthy copies of genes to cells. At present, these approaches are limited to laboratory or early clinical trials; they are not available as routine treatment and may carry unknown risks. [3]Tissue-engineering and regenerative orthopedic approaches
In cases of severe bone deformity or pseudarthrosis, surgeons may combine surgery with bone grafts or engineered materials that encourage bone healing. The purpose is to regenerate stronger, more stable bone. Mechanisms include scaffolds, growth factors, or bone-marrow–derived cells. These strategies are highly specialized and used only in selected patients after careful multidisciplinary discussion. [4]
Surgical Treatments
Debulking or removal of plexiform neurofibromas
Large, painful, or function-threatening plexiform neurofibromas may be partially or completely removed. The purpose is to relieve pain, reduce disfigurement, or prevent nerve or airway compression. Surgeons carefully separate tumor tissue from surrounding nerves and structures, but complete removal is sometimes impossible. The mechanism is purely mechanical: physically removing tumor mass. Risks include bleeding, nerve damage, recurrence, and scarring. [1]Surgery for malignant peripheral nerve sheath tumors (MPNST) or other cancers
If a tumor becomes cancerous, wide surgical excision is usually the main treatment. The purpose is to remove all cancer cells with clear margins to reduce recurrence. This involves resecting the tumor plus a rim of normal tissue. Mechanistically, surgery aims at complete local control; it is often combined with chemotherapy or radiation when needed. Risks include loss of function in nearby nerves or muscles and typical surgical complications. [2]Spinal surgery for scoliosis or spinal cord compression
Severe scoliosis or tumors compressing the spinal cord may require spinal fusion, decompression, or instrumentation. The purpose is to protect the spinal cord, prevent paralysis, and improve posture. Surgeons realign the spine, remove bone or tumor compressing the cord, and stabilize with rods and screws. The mechanism is structural correction and stabilization, but recovery is long and requires physiotherapy. [2]Orthopedic surgery for limb deformities
Some patients develop tibial bowing, pseudarthrosis, or limb length differences. Orthopedic surgeons may perform bone grafts, fixation, or lengthening procedures. The purpose is to improve walking, reduce pain, and prevent fractures. Mechanistically, surgery repositions and stabilizes bones, sometimes combining with grafts that encourage new bone growth. Risks include infection, non-union, and the need for repeat operations. [3]Surgery for gastrointestinal stromal tumors or other internal tumors
Occasionally, internal tumors such as gastrointestinal stromal tumors (GIST) occur. Surgical resection may be recommended when feasible. The purpose is to remove the tumor, relieve bleeding or obstruction, and obtain a full diagnosis. Surgeons remove the segment of bowel or organ containing the tumor. Risks include leakage, infection, and altered digestion, so decisions are individualized by a multidisciplinary tumor board. [3]
Prevention and Risk-Reduction Strategies
Regular specialist follow-up – Attending all scheduled NF1 or genetics clinic visits helps detect tumors, blood pressure problems, or school difficulties early, when treatment is easier and more effective. [1]
Prompt evaluation of new or changing lumps – Any rapidly enlarging neurofibroma, new pain, or neurologic symptoms around a tumor should be checked quickly, because early diagnosis of MPNST or other complications can improve outcomes. [1]
Monitoring blood pressure – Periodic blood pressure checks help catch hypertension early, protecting the heart, kidneys, and brain from long-term damage. [2]
Vision and hearing screening – Regular eye exams and hearing checks detect optic pathway gliomas or other sensory problems before severe vision or hearing loss occurs. [2]
Vaccination according to national schedules – Routine vaccines reduce serious infections, which is especially important for children who may need surgery, anesthesia, or immunosuppressive cancer treatments in the future. [3]
Healthy lifestyle (diet, sleep, exercise) – Balanced nutrition, regular physical activity, and good sleep support the immune system, mood, and bone strength, reducing some modifiable risks like obesity, falls, and stress-related problems. [3]
Avoiding unnecessary radiation exposure – Because of a higher tumor risk, imaging tests that involve radiation (like CT scans) should be used only when truly needed; MRI is preferred when appropriate. [4]
Genetic counseling before pregnancy – Understanding inheritance and testing options helps families plan and may prevent unexpected distress by offering early diagnosis choices for future pregnancies. [4]
Early developmental and school support – Addressing delays and learning difficulties early can prevent secondary problems like low self-esteem, school failure, and behavioral issues. [5]
Psychological support to reduce chronic stress – Chronic stress can worsen pain, sleep, and behavior. Ongoing psychological support and stress-management strategies reduce this load and may indirectly prevent some complications. [5]
When to See a Doctor
People with chromosome 17q11.2 deletion syndrome need regular planned follow-up, but certain warning signs require urgent medical review. Families should contact a doctor promptly if they notice a new lump or tumor growing quickly, persistent or severe pain in a neurofibroma, sudden weakness, numbness, or trouble walking, or any changes in vision such as blurred or double vision. New seizures, severe headaches, repeated vomiting, or changes in consciousness are also red-flag symptoms. [1] [2]
Other reasons to seek medical help include a sudden drop in school performance, big changes in behavior or mood, persistent high blood pressure readings, unexplained weight loss, prolonged fevers, or gastrointestinal bleeding (such as black or bloody stools). If any medicine causes worrying side effects—like rash, jaundice, breathing trouble, or suicidal thoughts—the prescribing doctor or emergency services must be contacted immediately. It is safer to over-report symptoms than to wait and hope they will go away. [2] [3]
What to Eat and What to Avoid
Emphasize whole foods – Focus on fruits, vegetables, whole grains, lean proteins, and healthy fats to support growth, immunity, and wound healing. [1]
Include calcium- and vitamin-D–rich foods – Dairy products, fortified plant milks, and leafy greens help keep bones strong, especially if activity is limited. [1]
Offer protein at each meal – Eggs, beans, fish, poultry, tofu, or lentils provide building blocks for muscles, enzymes, and immune cells. [2]
Encourage fiber-rich foods – Whole grains, fruits, vegetables, and legumes can help prevent constipation, which may be worsened by some medicines. [2]
Promote adequate fluids – Water and other healthy drinks support kidney function, bowel regularity, and overall metabolism; dehydration can worsen headache and fatigue. [3]
Limit ultra-processed foods and sugary drinks – These can worsen weight gain, blood sugar spikes, and fatigue without providing useful nutrients. [3]
Avoid very high-salt diets – Excess salt can worsen or increase the risk of high blood pressure, which is already a concern in NF1-related conditions. [4]
Be cautious with herbal supplements – Many herbal products lack safety data in children or can interact with chemotherapy, antiseizure drugs, or targeted therapies, so they should not be used without medical advice. [4]
Avoid self-prescribing high-dose vitamins – Extremely high doses of fat-soluble vitamins or single nutrients can cause toxicity or interfere with medications; any strong supplementation plan should be guided by lab tests and a clinician. [5]
Adjust diet around medications – Some medicines must be taken on an empty stomach (like selumetinib), while others are better with food to reduce stomach upset; following the specific product label and doctor’s instructions is essential. [5]
Frequently Asked Questions
Is chromosome 17q11.2 deletion syndrome the same as NF1?
No. It is closely related but usually more severe. In typical NF1, only the NF1 gene is mutated. In chromosome 17q11.2 deletion syndrome, a larger piece of chromosome 17 is missing, including NF1 and nearby genes. This often leads to more neurofibromas, more distinct facial features, and greater developmental and learning difficulties than in many people with classic NF1. [1] [2]How is the syndrome diagnosed?
Diagnosis is usually made by genetic testing, such as chromosomal microarray or other copy-number tests, which detect the 17q11.2 deletion. Doctors also look at clinical features, including café-au-lait spots, freckling, neurofibromas, and developmental history. Sometimes, NF1 gene sequencing is done first, and when it is negative in a child with strong NF1 features, a microdeletion analysis is ordered to look for larger deletions. [1] [3]Can this condition be cured?
There is currently no cure because the missing chromosome section cannot yet be routinely replaced. Treatment focuses on managing tumors, seizures, behavior, learning issues, and orthopedic or vision problems. Targeted drugs like selumetinib or mirdametinib can shrink certain tumors, and supportive therapies can greatly improve function and quality of life. Research into gene- and cell-based therapies is ongoing but still experimental. [2] [3]Will every person get cancer?
No. Although cancer risk is higher than in the general population, not everyone will develop cancer. Many people live their whole lives without malignant tumors. Regular clinical exams and prompt evaluation of new or changing lumps are important for early detection of malignant peripheral nerve sheath tumors or other cancers that might appear. Risk varies between individuals and should be discussed with a genetics or NF1 specialist. [2] [4]Why are learning and behavior problems so common?
The deletion disrupts NF1 and other genes important for brain development and signaling. Studies show that many children with NF1 or NF1 microdeletion have difficulties with attention, visuospatial skills, planning, and sometimes autism-spectrum or anxiety symptoms. These challenges reflect altered brain networks, not laziness or poor parenting. Supportive educational and psychological interventions, with or without medications, can significantly improve outcomes. [3] [4]Can children attend regular school?
Yes, many can attend mainstream schools with appropriate supports. Some need special education classrooms or resource rooms. With an individualized education plan, assistive technology, and skilled teachers, children can make meaningful progress. The goal is inclusion with realistic expectations and supports tailored to each child’s strengths and challenges. [3] [5]How often should my child be checked by doctors?
Follow-up schedules vary, but many guidelines recommend at least yearly comprehensive evaluations by a clinician familiar with NF1, plus more frequent visits if specific issues (like tumors, high blood pressure, or seizures) are present. Eye exams, blood pressure checks, and developmental reviews are usually done regularly. The exact schedule should be individualized by your care team. [4] [5]Is physical activity safe?
In most cases, yes. Moderate physical activity is encouraged and helps strength, bone health, mood, and weight control. However, children with large tumors, spinal issues, or heart problems may need restrictions or specific guidance from their doctors. Activities with a high risk of major trauma should be discussed case by case. [4] [6]Can we use alternative or herbal medicine?
Many families are interested in “natural” approaches, but herbal products can interact with chemotherapy, targeted therapies, or antiseizure drugs, and their safety data in children are often limited. They should not be started without discussing with the medical team. Non-drug therapies with good safety data—like physiotherapy, counseling, and structured education supports—are usually safer first choices. [5] [6]What about future pregnancies?
Because this is usually an autosomal dominant condition, a person with the deletion has a 50% chance of passing it to each child. Genetic counseling can explain options such as prenatal testing or pre-implantation genetic testing with in-vitro fertilization. The decision to use these options is personal and should be made after thorough counseling and reflection. [5] [7]Do adults with this syndrome need ongoing care?
Yes. While many issues appear in childhood, adults remain at risk for new tumors, high blood pressure, pain, and psychological difficulties. Adult NF1 or genetics clinics can coordinate surveillance imaging, cardiac and blood pressure monitoring, and support for work and mental health. Transition from pediatric to adult care should be carefully planned. [6] [7]Can targeted drugs replace surgery for tumors?
Sometimes targeted drugs like selumetinib or mirdametinib may shrink plexiform neurofibromas enough to avoid or delay surgery, especially when tumors are in difficult locations. However, they do not always fully remove tumors, and side effects can be significant. In other situations, surgery remains the best option. Decisions are made case by case by a multidisciplinary tumor board. [6] [8]Is life expectancy always shortened?
On average, people with NF1 can have a modestly reduced life expectancy due to cancer and vascular complications, and severe NF1 microdeletion may carry higher risks. However, this is an average, not a rule. Many individuals live long lives, especially with good surveillance and early treatment. It is more helpful to focus on prevention, surveillance, and quality of life rather than on a single number. [7] [8]What can families do day-to-day to help?
Families can help by keeping a medical notebook, attending all appointments, following therapy plans, supporting school accommodations, and encouraging enjoyable activities and friendships. Providing emotional support, celebrating small achievements, and advocating for needed services all make a big difference. Self-care for caregivers is also essential to prevent burnout and maintain a stable, nurturing environment. [7] [9]Where can we find reliable information and support?
Reliable information usually comes from national genetic or rare disease centers, NF1 foundations, and peer-reviewed medical sources. Support organizations can offer educational materials, helplines, and peer groups. Your genetics or NF1 clinic can suggest trusted websites and local resources. Always be cautious with unverified internet sources that promise quick cures or sell expensive unproven treatments. [8] [9]
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.
