Schuurs-Hoeijmakers syndrome is a rare genetic condition that affects development, learning, behavior, and physical features. Many children with Schuurs-Hoeijmakers syndrome are recognized in infancy or early childhood because of delayed milestones, low muscle tone, feeding difficulties, or the early signs of Schuurs-Hoeijmakers syndrome in the face, hands, or growth pattern. Not everyone will have the same experience. Schuurs-Hoeijmakers syndrome is lifelong, and care usually focuses on speech, physical, and occupational therapy plus support for feeding, sleep, schooling, and other medical needs. The outlook varies with the severity of a person’s features and health problems, but treatment is mainly supportive rather than curative.
How many people live with Schuurs-hoeijmakers syndrome?
Schuurs-Hoeijmakers syndrome is so rare that Orphanet lists it as affecting fewer than 1 in 1 million people, which works out to fewer than about 8,100 people worldwide (Orphanet, 2024) and fewer than about 340 people in the United States (Orphanet, 2024). These are rough upper-limit estimates, not direct counts, so the real number of people living with it may be lower.
Overview
Schuurs-hoeijmakers syndromeSymptoms
Schuurs-Hoeijmakers syndrome often affects development, learning, speech, and behavior. Common features include low muscle tone, feeding difficulties, and distinctive facial features. Some children also have seizures, vision problems, or heart differences.
Outlook and prognosis
Schuurs-Hoeijmakers syndrome is lifelong, but many people make steady progress with speech, learning, and daily skills when support starts early. Outlook varies, yet most need ongoing help for developmental, behavioral, or medical needs. Life expectancy is not well defined.
Causes and risk factors
Schuurs-Hoeijmakers syndrome is caused by a change in the PACS1 gene, usually arising new in the child rather than being inherited. Risk factors are not known; lifestyle or environmental exposures do not cause Schuurs-Hoeijmakers syndrome.
Genetic influences
Genetics are central to Schuurs-Hoeijmakers syndrome. It is caused by a change in the PACS1 gene, and most cases happen as a new genetic change rather than being inherited from a parent.
Diagnosis
Diagnosis of Schuurs-Hoeijmakers syndrome usually starts with its pattern of developmental and physical features. Doctors then confirm the genetic diagnosis of Schuurs-Hoeijmakers syndrome with genetic testing, usually by finding a change in the PACS1 gene.
Treatment and drugs
Treatment for Schuurs-Hoeijmakers syndrome focuses on daily needs, often with speech, physical, and occupational therapy. Many living with Schuurs-Hoeijmakers syndrome also benefit from developmental support, special education, and medicines for seizures, sleep problems, or behavior.
Symptoms
Schuurs-Hoeijmakers syndrome usually affects development from early childhood, especially speech, learning, and everyday skills. Many living with Schuurs-Hoeijmakers syndrome also have low muscle tone, behavior differences, and feeding or bowel problems that shape daily routines. The early features of Schuurs-Hoeijmakers syndrome often include delayed milestones and limited speech, although some signs are easier to recognize than others. Features vary from person to person and can change over time.
Many children are late to say first words and may use only a few words or short phrases. This can make it harder to ask for help, join conversations, or explain pain and discomfort.
Learning often happens more slowly than expected, and many children need extra support at school and at home. For many, this can mean needing help with problem-solving, self-care, and other daily routines.
Low muscle tone can make babies feel floppy and can delay sitting, crawling, and walking. Later on, some children tire more easily, have balance problems, or struggle with fine-motor tasks such as using utensils or buttons.
Some children have attention problems, repetitive behaviors, sensory sensitivities, or features of autism. These differences can affect play, transitions, and how comfortable busy or noisy places feel.
How people usually first notice Schuurs-hoeijmakers syndrome?
Schuurs-Hoeijmakers syndrome is usually first noticed in infancy or early childhood, when families or doctors see delays in development such as slower sitting, walking, or speech, often along with low muscle tone, which can make a baby feel unusually floppy. The first signs of Schuurs-Hoeijmakers syndrome can also include feeding difficulties, a smaller-than-expected head size, and facial features that stand out to a clinician, while some children come to attention because of seizures or autism-like social and communication differences. In some cases, how Schuurs-Hoeijmakers syndrome is first noticed is through genetic testing after these early patterns appear, since the signs can vary from one child to another.
Types of Schuurs-hoeijmakers syndrome
Many living with Schuurs-hoeijmakers syndrome share a similar core pattern of developmental, learning, speech, and behavior-related features, but the severity can vary from one person to another. This condition is usually linked to changes in the PACS1 gene rather than to several clearly defined clinical variants. No distinct types of Schuurs-hoeijmakers syndrome are widely recognized.
Can I slow down the onset of symptoms?
No, not based on what doctors know today: Schuurs-Hoeijmakers syndrome is caused by a genetic change and usually affects development before birth or very early in life, so lifestyle changes are not known to delay when symptoms begin. Early support, such as speech, physical, and learning therapies, along with regular medical follow-up, may help with day-to-day development and comfort, but that is different from preventing the condition or pushing its start later. Research is ongoing, and while early care can still make a meaningful difference for many living with this syndrome, it cannot currently be expected to stop symptoms from appearing.
What genetics can tell you about symptoms
Genetics can give some clues about symptoms in Schuurs-Hoeijmakers syndrome, but they do not predict every detail for one individual. The condition is usually caused by a change in the same gene, and many people share a similar pattern of developmental delay, learning difficulties, speech delay, and recognizable facial features, yet the severity and day-to-day challenges can still vary from person to person. In most cases, symptoms begin early in childhood, but genetics is better at confirming the diagnosis than at telling exactly how mild or severe someone’s symptoms will be.
Causes and risk factors
For families looking into the causes of Schuurs-Hoeijmakers syndrome, the main cause is a change in the PACS1 gene. In most children, this change is new and is not inherited from either parent. Rarely, Schuurs-Hoeijmakers syndrome can be passed down if a parent carries the same gene change. Lifestyle, diet, and things in the environment are not known to cause it. Genetic testing can sometimes clarify your personal risk.
What are the most common causes or risk factors?
The main cause of Schuurs-Hoeijmakers syndrome is a harmful change in the PACS1 gene, which affects early brain and body development. In most families, this gene change happens for the first time in the child by chance, so there are no known lifestyle, pregnancy, or environmental risk factors. The chance is higher if a parent has the same gene change or, more rarely, carries it only in some egg or sperm cells, even if they do not have symptoms.
Environmental and biological risk factors
When people ask about biological and environmental risk factors for Schuurs-hoeijmakers syndrome, the clearest answer is that most known risk comes from a chance event very early in development. Doctors often group risks into internal (biological) and external (environmental). For this syndrome, biological factors are much better established than outside exposures, and no common pregnancy or household factor has been proven to cause it.
Most cases begin with a new biological change that happens in the egg, sperm, or very soon after fertilization. This usually occurs by chance and is not known to be caused by anything a parent did during pregnancy.
Rarely, a parent may carry the change in a small number of egg or sperm cells without knowing it. This can slightly raise the chance of another pregnancy being affected, even if the parent is healthy and routine blood testing is normal.
In rare conditions caused by new DNA changes, older paternal age can modestly increase the chance that a new change forms in sperm cells. This is a general biological pattern and is not thought to explain most cases of Schuurs-hoeijmakers syndrome.
No environmental exposure has been clearly proven to cause Schuurs-hoeijmakers syndrome. That includes common day-to-day factors, and there is no well-established link with routine pregnancy exposures, infections, or household chemicals.
Genetic risk factors
Most cases of Schuurs-hoeijmakers syndrome happen because of a change in one gene called PACS1. When families ask about the genetic causes of Schuurs-hoeijmakers syndrome, this gene is the key piece. In most children, the change is new and was not inherited from either parent. In some cases, genetic testing can give a clearer picture of your personal risk.
PACS1 change: Schuurs-hoeijmakers syndrome is caused by a harmful change in the PACS1 gene. This change affects early development, especially the brain and facial features.
New in child: In most families, the PACS1 change appears for the first time in the child. This is called a de novo change, which means it was not passed down from either parent.
Dominant pattern: One changed copy of PACS1 is enough to cause Schuurs-hoeijmakers syndrome. This inheritance pattern is known medically as autosomal dominant.
Future pregnancies: If neither parent carries the PACS1 change on testing, the chance of having another child with Schuurs-hoeijmakers syndrome is low, but not zero. Rarely, a parent can have the change in some egg or sperm cells even when it does not show up in a blood test.
Affected parent: If a parent has Schuurs-hoeijmakers syndrome, each pregnancy has a 1 in 2, or 50%, chance of inheriting the changed gene. The way the condition shows up can still vary between family members.
Lifestyle risk factors
Schuurs-Hoeijmakers syndrome is a genetic condition, so lifestyle habits do not cause it. However, when families ask how lifestyle affects Schuurs-Hoeijmakers syndrome, daily routines can make a meaningful difference in comfort, function, and complication risk. The most relevant factors are sleep, movement, nutrition, bowel habits, stress and sensory load, and seizure-safe habits when seizures are present.
Irregular or poor-quality sleep can worsen irritability, attention problems, and daytime functioning in people with Schuurs-Hoeijmakers syndrome. A predictable bedtime routine and good sleep habits may support behavior, learning, and family routines.
Too little movement can contribute to low muscle tone, reduced endurance, balance problems, and constipation that may already affect this syndrome. Regular, adapted activity and physical play may help mobility, posture, and participation in daily tasks.
Limited diets, feeding difficulties, or unbalanced meals can worsen poor growth, low energy, or constipation in Schuurs-Hoeijmakers syndrome. Eating patterns that match chewing, swallowing, and sensory needs can support growth and day-to-day function.
Low fluid intake and routines that promote constipation can increase abdominal discomfort, appetite changes, and behavioral distress. Good hydration, fiber when tolerated, and regular toilet habits may reduce one of the common practical problems seen in this condition.
Risk prevention
Schuurs-Hoeijmakers syndrome is a rare genetic condition, so there is no known way to prevent the syndrome itself from happening. For many living with Schuurs-Hoeijmakers syndrome, prevention is mainly about lowering the risk of complications, spotting problems early, and supporting development, comfort, and day-to-day function. Different people need different prevention strategies—there’s no single formula. Regular follow-up with a care team can help because symptoms and support needs vary from child to child.
Ongoing visits with a pediatrician and specialists can help catch common issues in Schuurs-Hoeijmakers syndrome early. This may lower the impact of feeding problems, constipation, sleep difficulties, and other health concerns before they become harder to manage.
Careful tracking of weight, height, and nutrition can help prevent poor growth or low energy in children with Schuurs-Hoeijmakers syndrome. If eating is slow, picky, or tiring, early support from a dietitian or feeding team may help.
Early physical, speech, and occupational therapy can help prevent avoidable loss of skills and support mobility, communication, and daily routines. This is especially helpful when early symptoms of Schuurs-Hoeijmakers syndrome include low muscle tone or developmental delays.
Sleep problems are common in Schuurs-Hoeijmakers syndrome, and poor sleep can affect learning, behavior, and family life. A steady bedtime routine and medical review of snoring, frequent waking, or daytime sleepiness may help prevent added strain.
Can you prevent Schuurs-hoeijmakers syndrome?
No, Schuurs-Hoeijmakers syndrome usually cannot be prevented. It is caused by a change in a gene, and in most cases this happens by chance rather than because of anything parents did before or during pregnancy. If your family has been affected, genetic counseling can help you understand the chance of it happening again and what testing options may be available for a future pregnancy.
Transmission
Schuurs-Hoeijmakers syndrome is not infectious, so it cannot spread from person to person through touch, coughing, sex, food, or shared spaces. Instead, it happens because of a change in a gene called PACS1, and for many living with Schuurs-Hoeijmakers syndrome this gene change starts for the first time in them rather than being inherited from a parent.
When people ask how Schuurs-Hoeijmakers syndrome is inherited, the usual answer is that most cases are new genetic changes, but a parent living with Schuurs-Hoeijmakers syndrome can pass it on to a child. If a parent has the condition, each pregnancy has a 1 in 2, or 50%, chance of the child inheriting the same gene change.
When to test your genes
Consider genetic testing when a child has unexplained developmental delay, intellectual disability, very delayed speech, low muscle tone, feeding problems, seizures, or the facial features often seen with Schuurs-Hoeijmakers syndrome. A confirmed PACS1 diagnosis usually guides supportive care and specialist monitoring, rather than early disease prevention.
Diagnosis
Schuurs-Hoeijmakers syndrome is usually suspected when a child has a pattern of developmental delays, speech difficulties, and physical features that tend to appear together. Doctors often bring the diagnosis into focus by combining a careful exam with developmental history and genetic testing. Getting a diagnosis is often a turning point toward answers and support. Because this condition is rare, the genetic diagnosis of Schuurs-Hoeijmakers syndrome may take time, especially if early signs overlap with other developmental conditions.
Doctors look at the overall pattern of signs, including developmental delay, limited or absent speech, low muscle tone, feeding challenges, and differences in facial appearance. No single feature confirms the condition on its own, but the combination can strongly raise suspicion.
A detailed family and health history can help show when delays first appeared and how skills such as sitting, walking, and communication have developed over time. This helps doctors understand whether the pattern fits Schuurs-Hoeijmakers syndrome or suggests another cause.
The main test is genetic testing to look for a change in the PACS1 gene, which is the known cause of Schuurs-Hoeijmakers syndrome. A gene panel, exome test, or similar DNA test can confirm the diagnosis when the typical disease-causing variant is found.
Doctors may perform a full physical and neurologic exam to check muscle tone, movement, growth, and features that can go along with the syndrome. This can help guide testing and also identify medical needs that should be addressed early.
How is Schuurs-hoeijmakers syndrome diagnosed?
Schuurs-Hoeijmakers syndrome is usually suspected when a child has a pattern of delayed development, especially speech delay and learning problems, along with certain facial features and sometimes behavior differences such as autism-like traits. Doctors usually confirm the diagnosis with a genetic test, using blood or saliva, that looks for a change in the PACS1 gene. After that, they may also do checks such as hearing, vision, heart, or brain testing to understand how the condition is affecting the child and what support is needed.
Stages of Schuurs-hoeijmakers syndrome
Schuurs-hoeijmakers syndrome does not have defined progression stages. This is because it is a genetic condition that is usually recognized by a pattern of developmental and physical features, rather than by a steady step-by-step decline over time. Doctors usually start with a conversation about development, learning, behavior, and health, along with a physical exam and review of the early symptoms of Schuurs-hoeijmakers syndrome. Diagnosis is usually confirmed with genetic testing, and follow-up care focuses on monitoring a child’s needs over time rather than assigning a disease stage.
Outlook and prognosis
The outlook for people with Schuurs-Hoeijmakers syndrome is variable, but many affected individuals have a stable, lifelong neurodevelopmental condition rather than a clearly progressive degenerative disorder. Most children continue to make developmental gains over time, although intellectual disability, marked speech and language impairment, behavioral differences, seizures in some individuals, and ongoing need for educational and daily living support are common. Published reports include adolescents and adults, suggesting that survival into adulthood is possible and often expected. Because the syndrome is very rare, long-term data are limited, and a precise life expectancy has not been established. There is no well-defined evidence that Schuurs-Hoeijmakers syndrome by itself causes early death, but prognosis can be influenced by the severity of associated medical problems such as epilepsy, feeding difficulties, aspiration risk, constipation, or congenital anomalies. Early multidisciplinary care, including neurology, developmental therapies, communication support, and management of medical complications, can improve function, comfort, and quality of life.
Long-term effects
For many families, the day-to-day picture of Schuurs-Hoeijmakers syndrome centers on development, communication, learning, and the level of support needed over time. Long-term effects vary widely, but most people living with Schuurs-Hoeijmakers syndrome continue to have some degree of intellectual disability and speech-language difficulty into adult life. The long-term picture is often shaped by childhood developmental differences, along with related issues such as behavior changes, low muscle tone, feeding or bowel problems, and sometimes seizures or vision concerns.
Most people with Schuurs-Hoeijmakers syndrome have lasting developmental and learning differences that continue through childhood and adulthood. Many need extra support with school, daily tasks, and independent living, although the amount of help can vary.
Speech and language problems are often one of the most noticeable long-term features. Some people use only a few words or short phrases, so communication may continue to rely partly on gestures, pictures, or communication devices.
Attention problems, repetitive behaviors, anxiety, or autistic traits can continue over the years. These features may affect school, friendships, and routines, even when early symptoms of Schuurs-Hoeijmakers syndrome first seemed mostly developmental.
Low muscle tone and delayed motor skills can lead to long-term issues with balance, coordination, and fine hand movements. For many, this can mean taking longer with walking, dressing, writing, or other everyday physical tasks.
How is it to live with Schuurs-hoeijmakers syndrome?
Living with Schuurs-Hoeijmakers syndrome often means growing up with developmental delays, especially in speech and learning, so daily life may involve extra support with communication, school, routines, and sometimes eating, movement, or sleep. Many people with this condition are social and expressive in their own way, but they may also have challenges with behavior, attention, or sensory sensitivities, and some live with seizures or other medical needs that add more appointments and monitoring. For families and other close supporters, this can mean a steady rhythm of caregiving, advocacy, and therapy visits, but it also means learning how the person communicates, what helps them thrive, and how to build a life around strengths as well as needs.
Treatment and drugs
There is no cure that fixes the genetic change behind Schuurs-Hoeijmakers syndrome, so treatment focuses on the problems it causes in daily life and on helping each person reach their best level of comfort, learning, and independence. Many living with Schuurs-Hoeijmakers syndrome benefit from a mix of physical, occupational, and speech therapy, along with early developmental support and school services, because early symptoms of Schuurs-Hoeijmakers syndrome often include delays with movement, communication, and learning. Doctors also treat related issues such as seizures, sleep trouble, feeding problems, constipation, or behavior concerns with standard medicines and practical support when needed. Not every treatment works the same way for every person, so care is usually tailored over time with input from a pediatrician, neurologist, therapists, and other specialists.
Can you cure Schuurs-hoeijmakers syndrome?
No, Schuurs-Hoeijmakers syndrome cannot be cured at this time because it is a genetic condition that is present from birth. Treatment focuses on helping with day-to-day symptoms and development, and may include speech, physical, and occupational therapy, learning and behavior support, and care for related health problems such as seizures, feeding trouble, or heart issues.
Non-drug treatment
Daily life with Schuurs-Hoeijmakers syndrome often involves delays with speech, learning, movement, and self-care, so non-drug treatment usually centers on building skills and making everyday tasks easier. Because needs can differ from one person to another, care is usually planned by a team and adjusted over time. Supportive therapies can improve communication, mobility, comfort, and participation at home, in school, and in the community.
Speech and language therapy is a main part of care because many people with Schuurs-Hoeijmakers syndrome have major speech delay or limited spoken language. Therapy may work on sounds, understanding, and social communication, and it often includes tools such as picture boards or speech-generating devices.
Physical therapy can help with low muscle tone, balance, coordination, and walking. For many, treatment begins not at the pharmacy, but with guided practice for posture, stairs, playground skills, and safe movement through the day.
Occupational therapy focuses on hand use, dressing, feeding, writing, and other daily tasks. It can also address sensory differences and help adapt routines so schoolwork, play, and self-care feel more manageable.
Some children need feeding therapy when chewing, swallowing, or handling different food textures is hard. This can make meals safer and less stressful, and it is often combined with advice on positioning and utensils.
Your genes may have an impact on how drugs work for you
For people living with Schuurs-Hoeijmakers syndrome, medicines are usually chosen to help with day-to-day problems such as seizures, sleep trouble, anxiety, or behavior concerns, and the way these medicines work can vary from one person to another. Right now, there is no well-established evidence that this syndrome itself causes a unique, predictable response to common medicines, so genetic drug-response testing is not usually a routine part of care just because someone has this condition. In real life, this often means treatment is adjusted slowly and carefully, watching for benefit and side effects, because many living with this syndrome can be more sensitive to medicines or may need a different dose than expected.
Pharmacological treatments
There is no medicine that treats the underlying genetic change in Schuurs-Hoeijmakers syndrome, so drug treatment focuses on day-to-day symptoms and comfort. Many living with Schuurs-hoeijmakers syndrome may be prescribed different medicines over time for seizures, sleep trouble, attention or behavior concerns, reflux, constipation, or repeated infections, depending on their needs. Not everyone responds to the same medication in the same way. Because early symptoms of Schuurs-hoeijmakers syndrome can differ from one child to another, doctors usually tailor treatment and review it regularly as needs change.
If someone with Schuurs-hoeijmakers syndrome has seizures, doctors often use standard anti-seizure medicines such as levetiracetam, valproate, or clobazam, chosen to match the seizure type and the child’s age. The goal is to reduce seizures safely, and treatment is adjusted based on how well it works and any side effects.
For attention, impulsivity, or marked hyperactivity, stimulants such as methylphenidate or amphetamine-based medicines may be used, and some children do better with nonstimulants such as guanfacine, clonidine, or atomoxetine. It’s common to try more than one drug before the best fit becomes clear.
Sleep problems may be treated with melatonin, and in some cases clonidine is also used when falling asleep is especially hard. Some medicines work quickly, while others need careful dose adjustment to improve sleep without causing too much daytime drowsiness.
When acid reflux is a problem, doctors may prescribe medicines such as omeprazole or lansoprazole, or sometimes histamine-2 blockers such as famotidine. These can help with pain, spit-up, feeding discomfort, and poor sleep linked to reflux.
Genetic influences
For many families, concerns begin with delayed speech, slower development, or learning differences in early childhood. A change in a gene can affect health, and Schuurs-Hoeijmakers syndrome happens because of a change in the PACS1 gene. This gene plays an important role in early development, especially in the brain, so the change can affect communication, learning, behavior, and sometimes other body systems. In most children, the PACS1 change is new, which means it was not inherited from either parent. If someone living with Schuurs-Hoeijmakers syndrome has children of their own, each pregnancy has a 1 in 2 chance of passing on the changed gene. Genetic testing can confirm the diagnosis and help families understand the genetic cause of Schuurs-Hoeijmakers syndrome and what it may mean for future pregnancies.
Is Schuurs-hoeijmakers syndrome genetic?
Genetics are central to Schuurs-Hoeijmakers syndrome. It is caused by a change in the PACS1 gene, and most cases happen as a new genetic change rather than being inherited from a parent.
Having a genetic risk is not necessarily a diagnosis
Gene variants are a usual part of human biology and are common throughout the general population. Most of these variants do not have a direct effect on health and simply add to natural human diversity. For many genes, carrying a variant connected to a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental factors are involved. In some situations, however, a single well-characterized variant in a particular gene is enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
For many families, treatment for Schuurs-Hoeijmakers syndrome is less about one single medicine and more about finding the right mix of therapies and symptom relief over time. The genetic change that causes Schuurs-Hoeijmakers syndrome is very helpful diagnostically, because once it is identified, doctors can focus care on common needs such as developmental support, seizure treatment when needed, and help with sleep, feeding, or bowel problems. Not every difference in response is genetic, but the gene finding itself does not currently point to one proven, gene-targeted drug for this condition, so medications are still chosen mainly by symptoms, age, other health issues, and side effects. For example, if a child has seizures, the choice of anti-seizure medicine is usually based on the seizure type and how well the medicine is tolerated, rather than on the syndrome alone. Many living with Schuurs-Hoeijmakers syndrome may also take medicines for reflux, constipation, behavior, or sleep, and these drugs can affect each person differently, so careful follow-up matters. As research moves forward, the genetic diagnosis may help families access studies and future precision treatments, but right now the main value of genetics is confirming Schuurs-Hoeijmakers syndrome and guiding personalized supportive care.
Interactions with other conditions
For many living with Schuurs-hoeijmakers syndrome, day-to-day health can be affected not just by learning and development differences, but also by other medical problems that can add to fatigue, discomfort, or behavior changes. Doctors call it a comorbidity when two conditions occur together. In Schuurs-hoeijmakers syndrome, some people also have seizures, and these can sometimes affect attention, sleep, and daily functioning, especially if seizure control is still being adjusted. Feeding difficulties, acid reflux, and constipation may also occur, and when these are active, they can make irritability, poor sleep, or slow growth more noticeable. Some children have heart differences present from birth, vision problems, or hearing issues, which may need separate follow-up because they can influence development and communication. Interactions can look very different from person to person, so regular care with a pediatrician and the right specialists can help sort out whether a new symptom is part of Schuurs-hoeijmakers syndrome itself or linked to another condition that also needs treatment.
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 Schuurs-hoeijmakers syndrome?
Schuurs-Hoeijmakers syndrome can look like other conditions that affect early development, especially autism spectrum disorder and genetic syndromes such as Angelman syndrome, Pitt-Hopkins syndrome, and Kleefstra syndrome, because they can all cause delays in speech, learning, movement, and behavior. Early on, doctors may also think about more common causes of developmental delay, such as cerebral palsy or hearing problems, and genetic testing is often what helps tell them apart.
History
Parents and doctors usually notice Schuurs-Hoeijmakers syndrome through everyday developmental differences first. A baby may seem unusually floppy, feeding may take extra time, or later on a child may need more support with speech, learning, and daily routines. Those patterns were recognized clinically before the condition had a clear name, and for many years people living with Schuurs-Hoeijmakers syndrome were likely grouped under broader labels such as developmental delay or intellectual disability.
It was only in the last decade that doctors began to describe Schuurs-Hoeijmakers syndrome as a distinct condition. First described in the medical literature as a recognizable syndrome linked to a shared pattern of developmental features and appearance, it helped explain why some families had been searching for answers for years without a precise diagnosis. Early reports brought together children and adults who had similar delays in speech and development, low muscle tone, and characteristic facial features, showing that these findings were part of one condition rather than unrelated problems.
As medical science evolved, genetic testing made it possible to confirm the diagnosis more reliably and to separate Schuurs-Hoeijmakers syndrome from other conditions that can look similar in early childhood. That mattered in real life: instead of hearing only that a child had “global delay,” families could finally get a more specific explanation and connect with the right specialists and support services. Not every early description was complete, yet together they built the foundation of today’s knowledge.
Today, awareness of Schuurs-Hoeijmakers syndrome is still growing. Because it is rare, many clinicians may never see a case during training, so diagnosis can still be delayed, especially when the early symptoms of Schuurs-Hoeijmakers syndrome are mild or overlap with more common developmental conditions. Even so, the history of this syndrome is a good example of how careful observation, better testing, and shared family experiences can slowly turn a confusing set of symptoms into a recognized diagnosis.