Mikati-Najjar-Sahli syndrome is a very rare genetic condition that affects early development and the nervous system. It is usually recognized in infancy or early childhood because children may have low muscle tone, delayed development, and trouble with movement, feeding, or communication. Not everyone will have the same experience. Mikati-Najjar-Sahli syndrome is lifelong, and care focuses on supportive treatment such as physical, occupational, and speech therapy, along with help for feeding or seizures if these occur. Early symptoms of Mikati-Najjar-Sahli syndrome can vary, so regular follow-up with specialists helps guide care and monitor overall health.
How many people live with Mikati-najjar-sahli syndrome?
There are no reliable published estimates for how many people worldwide or in the United States live with Mikati-Najjar-Sahli syndrome. Rare disease references such as Orphanet and OMIM describe it as exceptionally rare, but they do not give a firm global or U.S. count.
Overview
Mikati-najjar-sahli syndromeSymptoms
Mikati-Najjar-Sahli syndrome can include developmental delay, learning difficulties, low muscle tone, and distinctive facial features. Some children also have poor growth, feeding problems, or delays in walking and speech.
Outlook and prognosis
Mikati-Najjar-Sahli syndrome is a lifelong condition, and many living with it have lasting developmental delay, weak muscle tone, and movement problems. Outlook varies, but most need ongoing support with communication, mobility, learning, and daily care.
Causes and risk factors
Mikati-Najjar-Sahli syndrome is caused by harmful gene changes, usually inherited from both parents. It is a genetic condition present from early life, and lifestyle or environmental factors do not cause it, though they may affect symptoms or complications.
Genetic influences
Genetics are central to Mikati-Najjar-Sahli syndrome. It is caused by harmful changes in a specific gene, and different genetic variants can affect how the condition appears, including the timing and range of symptoms.
Diagnosis
Mikati-Najjar-Sahli syndrome is usually diagnosed by recognizing its clinical features and medical history. The genetic diagnosis of Mikati-Najjar-Sahli syndrome is confirmed with genetic testing, and doctors may also use imaging or other tests to check related findings.
Treatment and drugs
Treatment for Mikati-Najjar-Sahli syndrome is supportive, often including developmental therapies, nutrition support, and treatment for eye or nerve-related problems, with regular follow-up from neurology, genetics, and rehabilitation teams.
Symptoms
Daily life with Mikati-Najjar-Sahli syndrome often involves early developmental and neurological challenges. Many living with Mikati-Najjar-Sahli syndrome show signs in infancy or early childhood, although the exact pattern is not the same for everyone. Features vary from person to person and can change over time. Reported early features of Mikati-Najjar-Sahli syndrome often include delays in movement and learning, low muscle tone, and seizures.
Babies and children may be late to roll, sit, crawl, or walk. Everyday movement often takes more effort and develops more slowly than expected.
Low muscle tone can make a baby feel floppy when held and can affect posture. It may also make feeding, balance, and longer periods of activity more tiring.
Some people with Mikati-Najjar-Sahli syndrome have seizures, which may look like staring spells, body stiffening, jerking movements, or a sudden loss of awareness. The type and frequency can differ from one person to another.
Unsteady walking and poor coordination can affect play, stairs, and other daily tasks. Some may fall more easily or need extra support for safe mobility.
How people usually first notice Mikati-najjar-sahli syndrome?
The first signs of Mikati-Najjar-Sahli syndrome are usually noticed early in life, often when a baby or young child is not meeting expected developmental milestones or has unusual findings on a physical exam. In many living with Mikati-Najjar-Sahli syndrome, families first notice that something seems different during infancy or early childhood, and doctors may then recommend further testing to look for a rare genetic condition. Because this syndrome is very uncommon and its features can vary, how Mikati-Najjar-Sahli syndrome is first noticed is not exactly the same for every child, but it is typically recognized through a pattern of early developmental or medical concerns rather than a single warning sign.
Types of Mikati-najjar-sahli syndrome
No distinct types of Mikati-Najjar-Sahli syndrome are widely recognized.
Can I slow down the onset of symptoms?
No, there is no good evidence that lifestyle changes or medical treatment can meaningfully delay when symptoms start in Mikati-Najjar-Sahli syndrome, because it is a very rare genetic condition and the onset is driven mainly by the underlying gene change, not by daily habits. Research in this area is very limited, and while good overall health and early supportive care may help with comfort, development, and day-to-day function after symptoms begin, that is not the same as preventing the condition or stopping it from starting. Even so, staying closely connected with a specialist team can still help people living with this condition get support early and make the most of available care.
What genetics can tell you about symptoms
For Mikati-Najjar-Sahli syndrome, genetics can help confirm the diagnosis, but because the condition is so rare, it cannot yet predict symptoms with much precision. Reported cases suggest that the exact genetic change may influence which problems appear, how severe they are, and when they begin, but people with the same syndrome can still have different day-to-day challenges. In practice, genetic testing is most useful for identifying the cause and guiding care and family counseling, rather than forecasting an exact symptom pattern.
Causes and risk factors
Mikati-Najjar-Sahli syndrome is caused by an inherited gene change that affects early growth and development. A child is at higher risk when both biological parents carry the same changed gene. The main risk factors for Mikati-Najjar-Sahli syndrome are family history and parents who are related by blood, such as cousins. No lifestyle choice or common environmental exposure is known to cause Mikati-Najjar-Sahli syndrome. Genetic testing and counseling can help families understand carrier status and future pregnancy risk.
What are the most common causes or risk factors?
Mikati-Najjar-Sahli syndrome is thought to be a very rare inherited condition caused by a change in a gene, usually when a child receives the same changed gene from both parents. The main risk factors are a family history of the syndrome and having parents who both carry the same rare gene change, which is more likely in families where the parents are closely related. No clear lifestyle, diet, or environmental risk factors are known.
Environmental and biological risk factors
For Mikati-Najjar-Sahli syndrome, doctors have not identified clear environmental or other noninherited biological risk factors. Most published reports suggest it is not caused by something a parent did or did not do during pregnancy. Awareness of both biological and environmental influences helps you feel prepared. In practice, the confirmed risk factors for Mikati-Najjar-Sahli syndrome outside family-related causes remain very limited.
Older maternal age has not been shown to increase the chance of Mikati-Najjar-Sahli syndrome. This is different from some conditions in which age has a clearer role.
Older paternal age has not been established as a risk factor for Mikati-Najjar-Sahli syndrome. Current medical reports do not show a consistent age-related pattern.
Infections, medications, radiation, or chemical exposures during pregnancy have not been specifically linked to Mikati-Najjar-Sahli syndrome. Even so, avoiding harmful exposures is still important for general pregnancy health.
Common pregnancy-related conditions such as diabetes, high blood pressure, or thyroid problems have not been clearly tied to Mikati-Najjar-Sahli syndrome. Doctors usually cannot point to a consistent pregnancy-related trigger.
Genetic risk factors
Because this disorder is very rare, the genetic causes of Mikati-Najjar-Sahli syndrome are still being clarified, but the pattern seen in reported families points strongly to an inherited cause. The condition appears most consistent with autosomal recessive inheritance, which means a child is affected after receiving a changed copy of the same gene from each parent. Some risk factors are inherited through our genes. In practice, the main genetic risks are having two carrier parents, a family history of the condition, and parents who are biologically related.
Inherited change: Mikati-Najjar-Sahli syndrome appears to result from a harmful genetic change present from conception. In the families described so far, this change seems to be inherited rather than arising from a non-genetic cause.
Recessive pattern: The syndrome is most consistent with an autosomal recessive pattern of inheritance. This means a child usually needs to inherit one changed gene copy from each parent to develop the condition.
Carrier parents: Parents who each carry one changed copy are often healthy themselves and may not know they are carriers. When both parents are carriers, each pregnancy has a 1 in 4, or 25%, chance of Mikati-Najjar-Sahli syndrome.
Family history: A history of Mikati-Najjar-Sahli syndrome in a brother, sister, or other close relative raises the chance that the same genetic change is present in the family. This can be an important clue when doctors assess inherited risk.
Related parents: The chance of rare recessive conditions is higher when parents are biologically related, such as cousins. That is because relatives are more likely to carry the same uncommon gene change.
Lifestyle risk factors
Mikati-Najjar-Sahli syndrome is a rare genetic condition, so lifestyle habits do not cause it. Still, how lifestyle affects Mikati-Najjar-Sahli syndrome can matter for daily function, symptom control, and the risk of secondary complications. The most relevant factors are the ones that support mobility, nutrition, sleep, and consistent medical care.
Regular, adapted movement can help preserve strength, flexibility, balance, and endurance in people with Mikati-Najjar-Sahli syndrome. Long periods of inactivity may worsen deconditioning, joint stiffness, and loss of function over time.
Keeping up with physiotherapy, occupational therapy, and home exercise plans can improve posture, mobility, and everyday independence. Irregular follow-through may allow contractures, poor motor patterns, and functional decline to become more limiting.
A balanced diet that meets calorie, protein, and micronutrient needs can support growth, muscle health, and recovery. Poor intake, restrictive eating, or dehydration may worsen weakness, fatigue, constipation, or other complications related to reduced mobility.
Consistent, good-quality sleep can improve daytime energy, attention, behavior, and coping with neurologic symptoms. Chronic sleep disruption may make fatigue, irritability, and functional difficulties harder to manage.
Risk prevention
For Mikati-Najjar-Sahli syndrome, true prevention of the condition itself is usually not possible because it is a genetic condition present from birth. Prevention mostly means lowering the chance of passing it on in a family when the gene change is known, and reducing complications in someone living with Mikati-Najjar-Sahli syndrome. Different people need different prevention strategies—there’s no single formula.
If Mikati-Najjar-Sahli syndrome has been diagnosed in a family, meeting with a genetics specialist can clarify recurrence risk before pregnancy. This can help families understand carrier testing and what the chances may be for future children.
Testing close relatives may identify family members who carry the same genetic change linked to Mikati-Najjar-Sahli syndrome. Knowing this before pregnancy can guide reproductive planning and informed decisions.
When the disease-causing variant is known, some families may consider options such as IVF with embryo testing or testing during pregnancy. Prevention isn’t about perfection, it’s about small steps that add up.
For people with Mikati-Najjar-Sahli syndrome, regular visits with the right specialists can help catch problems early and reduce complications. This is often the most practical form of prevention after diagnosis, especially if early symptoms of Mikati-Najjar-Sahli syndrome are subtle or change over time.
Can you prevent Mikati-najjar-sahli syndrome?
No, Mikati-Najjar-Sahli syndrome cannot usually be prevented because it is a rare genetic condition that is present from birth. If this condition runs in your family, meeting with a genetics specialist before pregnancy may help you understand the chance of having a child with it and what testing options are available, but it cannot guarantee prevention.
Transmission
Mikati-Najjar-Sahli syndrome is not infectious, so it does not spread from one person to another through coughing, touching, sex, food, or everyday contact. Instead, Mikati-Najjar-Sahli syndrome is a genetic condition, which means it is linked to a change in a gene and may be passed from parent to child or, in some families, may happen because of a new genetic change. If you are wondering how Mikati-Najjar-Sahli syndrome is inherited, the exact pattern can vary depending on the family and the gene involved, so genetic testing and genetic counseling are often the best way to understand the chance of it happening again in a pregnancy. For many living with Mikati-Najjar-Sahli syndrome, the main issue is inheritance risk, not contagiousness.
When to test your genes
Because Mikati-Najjar-Sahli syndrome is a rare inherited condition, genetic testing is usually considered when a child has a pattern such as developmental delay, low muscle tone, movement differences, or seizures without a clear cause. Confirming the diagnosis can guide care, monitoring, and family planning.
Diagnosis
Diagnosis of Mikati-Najjar-Sahli syndrome usually starts when a child has a pattern of features that seem to fit together rather than one isolated problem. Doctors often combine a physical exam, developmental history, and family history with genetic tests to confirm the cause. Getting a diagnosis is often a turning point toward answers and support.
Doctors ask about pregnancy and birth history, early development, feeding, growth, and any seizures or other neurologic concerns. A detailed family and health history can help show whether similar features may run in the family.
The doctor looks for clinical features that may point to Mikati-Najjar-Sahli syndrome, including differences in growth, muscle tone, movement, or body features. This hands-on exam helps decide which genetic tests and specialist evaluations are most useful.
Doctors usually assess speech, learning, movement, and day-to-day skills to understand how the condition is affecting development. These findings can support the diagnosis of Mikati-Najjar-Sahli syndrome and help guide therapies.
The genetic diagnosis of Mikati-Najjar-Sahli syndrome is usually made with blood-based genetic tests, often using a gene panel or broader sequencing such as exome testing. These tests look for a disease-causing change that explains the pattern of features.
How is Mikati-najjar-sahli syndrome diagnosed?
Mikati-Najjar-Sahli syndrome is usually diagnosed when doctors notice a matching pattern of problems, often starting in infancy or childhood, during a physical exam and a careful review of growth, development, symptoms, and family history. Because this condition is very rare and can resemble other genetic conditions, genetic testing is often used to confirm the diagnosis, and other tests may be done based on the symptoms, such as brain imaging, eye or hearing checks, or routine lab work.
Stages of Mikati-najjar-sahli syndrome
Mikati-najjar-sahli syndrome does not have defined progression stages. This is because it is a rare genetic condition that is usually described by a pattern of lifelong developmental, movement, and neurological features rather than a step-by-step decline over time. Doctors usually start with a conversation about early symptoms of Mikati-najjar-sahli syndrome, followed by a physical exam and a review of development, movement, and any seizure history. Genetic testing is typically used to confirm the diagnosis, and follow-up focuses on tracking day-to-day needs and any changes in symptoms over time.
Outlook and prognosis
The outlook for people with Mikati-Najjar-Sahli syndrome is hard to predict because it has been reported in very few individuals, so long-term natural history and life expectancy are not well defined. Available descriptions suggest that affected people often have persistent neurodevelopmental and neurologic difficulties, meaning many features are likely to be lifelong rather than fully reversible. Prognosis is shaped mainly by the severity of developmental delay, seizures if present, feeding or mobility problems, and the need for ongoing supportive therapies. With multidisciplinary care, some symptoms and daily functioning may improve, but most patients are expected to continue to need specialized medical, educational, and rehabilitation support. There are no robust published data showing a characteristic pattern of early death, so mortality risk remains uncertain rather than clearly increased.
Long-term effects
For many families, the long-term effects of Mikati-Najjar-Sahli syndrome are most noticeable in development, learning, and day-to-day independence. Because this is a very rare genetic condition, the long-term picture is often different from one person to another. Many living with Mikati-Najjar-Sahli syndrome need ongoing medical, developmental, and educational support over many years. Some features are present early in life and can continue into adulthood rather than fading with age.
Delays in speech, learning, and motor skills often remain long term in Mikati-Najjar-Sahli syndrome. This can affect school progress, communication, and how much help someone needs with everyday tasks.
Low muscle tone, poor coordination, or delayed walking may continue over time. For many, symptoms can include tiring easily with physical activity and needing support for balance, mobility, or fine hand movements.
Some people with Mikati-Najjar-Sahli syndrome have ongoing problems with growth and gaining weight. In childhood this may show up as slow physical growth, and later it can mean a smaller body size than expected for age.
Feeding problems in early life can have lasting effects on nutrition and growth. Some may continue to have trouble chewing, swallowing, or taking in enough calories as they get older.
How is it to live with Mikati-najjar-sahli syndrome?
Living with Mikati-Najjar-Sahli syndrome can mean growing up with a rare genetic condition that often affects development, so daily life may involve extra support with learning, communication, movement, and other medical needs. Because the syndrome is uncommon and its features can vary, many living with it need regular follow-up with several specialists along with therapies and school or home accommodations to help them function as independently and comfortably as possible. For parents, siblings, and other close supporters, this can bring more caregiving, scheduling, and emotional strain, but it can also foster strong routines, teamwork, and advocacy around the person’s needs.
Treatment and drugs
Mikati-Najjar-Sahli syndrome is usually treated with supportive care, because there is no treatment that fixes the underlying genetic change itself. Treatment often looks different for each person, but it commonly focuses on managing the symptoms and health problems someone has, with follow-up from a team that may include a pediatrician, neurologist, rehabilitation specialists, and other doctors as needed. Many living with Mikati-Najjar-Sahli syndrome may benefit from therapies that support movement, communication, learning, feeding, and day-to-day function, while any related medical issues are treated individually. Because this is a very rare condition, care is often personalized, and families may also be offered genetic counseling to better understand the diagnosis, what to expect, and future family planning.
Can you cure Mikati-najjar-sahli syndrome?
No, there is currently no cure for Mikati-Najjar-Sahli syndrome, which is a rare genetic condition. Because it is genetic, treatment cannot remove the underlying cause, but it can help with symptoms and day-to-day functioning. Many living with this condition benefit from regular medical care and supportive therapies such as physical, occupational, or speech therapy, depending on their needs.
Non-drug treatment
For many living with Mikati-Najjar-Sahli syndrome, day-to-day care focuses on building skills, supporting development, and making home and school life easier. Because this condition can affect movement, learning, communication, and sometimes feeding or behavior, non-drug care is usually tailored to the symptoms each person has. Managing this condition often means working with a team that may include therapists, teachers, and rehabilitation specialists. Not every approach works the same way, so care is usually adjusted over time as needs change.
Physical therapy can help with balance, strength, posture, and everyday movement such as walking, sitting, or climbing stairs. For children with Mikati-Najjar-Sahli syndrome, regular guided exercises may support motor development and help prevent stiffness over time.
Occupational therapy focuses on daily skills like dressing, eating, handwriting, and using the hands more easily. It can also suggest simple changes at home or school, such as supportive seating or adapted utensils, to improve comfort and independence.
Speech and language therapy can support spoken language, understanding, and safer eating if mouth muscles are affected. For people with Mikati-Najjar-Sahli syndrome who speak very little, therapists may also introduce communication tools such as picture boards or speech devices.
Early intervention and special education services can help with learning, attention, social skills, and behavior. This can be especially helpful when early symptoms of Mikati-Najjar-Sahli syndrome include developmental delay or trouble keeping up with peers.
Your genes may have an impact on how drugs work for you
For people living with Mikati-Najjar-Sahli syndrome, there are no well-established gene-based rules that clearly predict how they will respond to medicines, and treatment is usually aimed at day-to-day symptoms rather than the syndrome itself. This can mean doctors may try common medicines for things like seizures, muscle stiffness, pain, or sleep problems and then adjust based on how well they work and whether side effects show up. Because this condition is very rare and people can be affected in different ways, medicine choices are usually individualized rather than guided by a specific genetic test for drug response.
Pharmacological treatments
For Mikati-Najjar-Sahli syndrome, there is no proven medicine that treats the underlying genetic condition itself. Treatment for Mikati-Najjar-Sahli syndrome is usually symptom-based, so the drugs used depend on the health issues each person has. Because this syndrome is very rare, doctors often borrow standard medicines from neurology, gastroenterology, or rehabilitation care when needed. Not everyone responds to the same medication in the same way.
There is no established disease-specific medication for Mikati-Najjar-Sahli syndrome. Most prescriptions are used to ease symptoms or related complications rather than to change the genetic cause.
If someone with Mikati-Najjar-Sahli syndrome has seizures, doctors may use anti-seizure drugs such as levetiracetam, valproate, or clobazam. The exact choice depends on seizure type, age, and side effects.
If feeding problems or reflux are present, medicines such as omeprazole or lansoprazole may be used to lower stomach acid. In some cases, doctors may also use medicines that help stomach emptying, depending on symptoms.
Constipation can be treated with medicines such as polyethylene glycol or lactulose when needed. Dosing may be increased or lowered gradually to improve comfort without causing loose stools.
Genetic influences
For families living with Mikati-Najjar-Sahli syndrome, one of the biggest questions is often whether Mikati-Najjar-Sahli syndrome is inherited and whether it could affect another child in the family. This syndrome is an inherited genetic condition and usually follows an autosomal recessive pattern, meaning a child develops it after receiving one nonworking copy of the related gene from each parent. A carrier means you hold the gene change but may not show symptoms. When both parents are carriers, each pregnancy has a 25% chance of Mikati-Najjar-Sahli syndrome, a 50% chance that the child will be a carrier, and a 25% chance that the child will inherit neither changed copy. Because of this strong genetic link, genetic counseling and, when available, genetic testing can help families understand the chances for brothers, sisters, and future pregnancies.
Is Mikati-najjar-sahli syndrome genetic?
Genetics are central to Mikati-Najjar-Sahli syndrome. It is caused by harmful changes in a specific gene, and different genetic variants can affect how the condition appears, including the timing and range of symptoms.
Having a genetic risk is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widely found in the general population. Most do not have a direct impact on health and simply reflect natural human diversity. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when more than one gene and environmental factors are involved. In some cases, though, a single well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
For families living with Mikati-Najjar-Sahli syndrome, treatment is usually tailored to the problems that affect daily life most, rather than following one standard drug plan. Because Mikati-Najjar-Sahli syndrome is caused by a genetic change, the exact result can help confirm the diagnosis and guide what doctors watch for over time. Not every difference in response is genetic, but genes can influence how quickly your body handles some medicines and how likely certain side effects may be. At this point, there are no widely used, gene-specific drug rules for Mikati-Najjar-Sahli syndrome itself, so medicines are usually chosen based on symptoms, age, overall health, and how someone responds after starting treatment. Families often ask whether genetic testing can help choose medicine for Mikati-Najjar-Sahli syndrome, and in some cases broader drug-response testing may be useful if reactions are unusual or treatment is not working as expected. For many, this means careful follow-up and dose changes matter just as much as the diagnosis itself.
Interactions with other conditions
Because Mikati-Najjar-Sahli syndrome is extremely rare, doctors do not have strong evidence that it has specific, well-defined interactions with other diseases in the way some more common conditions do. People living with Mikati-Najjar-Sahli syndrome may still have added challenges if they also develop common health problems such as infections, feeding difficulties, or breathing issues, because these can put extra stress on an already fragile system. Another important aspect is how it may link with other diseases. If Mikati-Najjar-Sahli syndrome affects movement, muscle tone, growth, or development, some may find that other neurologic or nutritional problems make daily symptoms harder to manage. Interactions can look very different from person to person, so care is usually focused on the individual’s symptoms, overall health, and any other diagnosed conditions rather than on a fixed pattern of disease overlap.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
What other conditions can cause similar symptoms to Mikati-najjar-sahli syndrome?
Because Mikati-Najjar-Sahli syndrome is very rare and can overlap with delayed development, low muscle tone, seizures, and movement or balance problems, doctors may also think about cerebral palsy, epilepsy disorders, mitochondrial or other metabolic conditions, and other genetic syndromes that affect brain development. The right diagnosis usually depends on the full pattern of symptoms over time, along with the exam, brain scans, and genetic testing.
History
Families and communities once noticed patterns of developmental differences, seizures, and changes in movement long before rare conditions could be grouped and named with much precision. For many living with Mikati-Najjar-Sahli syndrome today, that history matters because it helps explain why diagnosis can still take time, especially when early symptoms of Mikati-Najjar-Sahli syndrome overlap with more common childhood neurologic conditions.
Mikati-Najjar-Sahli syndrome entered medical recognition through modern case reports rather than older, widely used disease descriptions. Early reports focused on the combination of developmental delay, low muscle tone in infancy, and later movement or seizure-related problems, often seen in children from the same family or community. At first, doctors could mainly describe what they observed in day-to-day care: a baby who seemed unusually floppy, a toddler who was slower to sit or walk, or a child whose seizures prompted repeated specialist visits.
As medical science evolved, clearer patterns began to emerge. Researchers recognized that Mikati-Najjar-Sahli syndrome was not simply a general label for developmental problems, but a distinct condition with a characteristic set of neurologic features. Imaging studies, improved epilepsy care, and broader access to genetic testing helped separate it from other causes of developmental delay and seizures, even though the exact presentation can still vary from one person to another.
In recent decades, awareness has grown as rare disease networks and international reporting made it easier for doctors to compare cases across countries. That has led to earlier recognition in some families and a better understanding of the range of symptoms over time. Even so, Mikati-Najjar-Sahli syndrome remains rare, and much of what is known has come from carefully documented patient histories, long-term follow-up, and the growing ability to connect clinical findings with an underlying genetic cause.