Oculoskeletodental syndrome is a very rare genetic condition that can affect the eyes, teeth, and bones. It is usually recognized in infancy or childhood, although the features and timing can vary from person to person. Many living with Oculoskeletodental syndrome have lifelong vision problems, dental differences, short stature, or bone and joint changes, and some may also have hearing or developmental concerns. Not everyone will have the same experience. Treatment for Oculoskeletodental syndrome focuses on managing the features with regular eye care, dental treatment, and support from bone, growth, and child development specialists, and the outlook depends on how severe the condition is.
How many people live with Oculoskeletodental syndrome?
There is no reliable published count of how many people live with oculoskeletodental syndrome worldwide or in the United States. Major rare-disease references such as Orphanet and OMIM describe it as extremely rare, but they do not give a firm global or U.S. estimate.
Overview
Oculoskeletodental syndromeSymptoms
Oculoskeletodental syndrome often affects the eyes, teeth, and skeleton. Common features include vision problems, missing or small teeth, and differences in bone growth. Signs are usually noticed in childhood, but severity can vary.
Outlook and prognosis
Oculoskeletodental syndrome often means ongoing vision, bone, and dental care from childhood. Many people can do well with regular follow-up and treatment tailored to their symptoms. Outlook varies with severity, especially eye and skeletal problems.
Causes and risk factors
Oculoskeletodental syndrome is usually caused by a genetic change present before birth, often in the BCOR gene. It can run in families or happen for the first time in a child. Lifestyle or environmental factors do not cause it.
Genetic influences
Genetics are central to oculoskeletodental syndrome. It is usually caused by changes in the GJA1 gene, and these genetic variations help explain why signs can run in families and vary from one person to another.
Diagnosis
Oculoskeletodental syndrome is usually diagnosed from a pattern of clinical features affecting the eyes, teeth, and bones. Doctors often confirm the diagnosis of Oculoskeletodental syndrome with genetic tests and, when needed, imaging findings.
Treatment and drugs
Treatment for Oculoskeletodental syndrome focuses on the problems it causes. Many need regular eye, dental, bone, and joint care, with therapies, pain relief, and sometimes surgery. Genetic counseling can help families understand inheritance and planning.
Symptoms
Seeing clearly, biting comfortably, or keeping up with growth milestones can be harder for people living with Oculoskeletodental syndrome. For many people with Oculoskeletodental syndrome, the early features of Oculoskeletodental syndrome involve the eyes, teeth, and the way bones grow. Not everyone has the same mix of features, and some changes are mild while others need regular specialist care.
Eye structure can develop differently, and some people have lens clouding or other changes that limit clear vision. This may lead to blurry sight, trouble with bright light, or the need for regular eye care.
Teeth may be small, missing, slow to come in, or shaped differently than usual. Oculoskeletodental syndrome can also affect enamel and the way the teeth meet, which may make chewing harder and raise the risk of cavities.
Bones may grow in an unusual way, which can affect height, body proportions, or the shape of the fingers and toes. Day to day, it can feel like some hand tasks, shoe fitting, or physical activity take more effort.
Some people have stiff joints, very flexible joints, or a curved spine. These changes can cause aches, tiredness, or discomfort with long periods of sitting, standing, or walking.
How people usually first notice Oculoskeletodental syndrome?
Oculoskeletodental syndrome is usually first noticed early in life, often when doctors or families see an unusual combination of eye problems, differences in tooth development, and skeletal changes rather than one single sign on its own. The first signs of oculoskeletodental syndrome may include vision concerns in infancy or childhood, delayed or abnormal eruption of teeth, and differences in growth, the shape of the hands, feet, or spine, or the way bones develop. In some families, how oculoskeletodental syndrome is first noticed is during newborn or early childhood checkups, while in others it becomes clearer only as a child grows and these features appear together.
Types of Oculoskeletodental syndrome
No distinct types of Oculoskeletodental syndrome are widely recognized.
Can I slow down the onset of symptoms?
At this time, there is no good evidence that lifestyle changes or medical treatment can meaningfully delay the start of symptoms in oculoskeletodental syndrome, because it is a very rare genetic condition and many of its features begin before birth or in early childhood. Healthy habits are still important for overall well-being, but they have not been shown to prevent this condition or push back when eye, bone, or dental problems begin; research in this area is very limited. What can help is early, regular care with the right specialists so problems are found and treated sooner, which may improve day-to-day life even though it does not stop the condition from happening.
What genetics can tell you about symptoms
Genetics can explain the overall pattern of symptoms in oculoskeletodental syndrome, including problems affecting the eyes, teeth, and bones, and they can sometimes give clues about how early these features may show up. Different genetic changes may be linked to somewhat different symptom patterns or severity, but many people living with this condition can still have a wide range of symptoms, even within the same family. In general, genetics helps doctors confirm the diagnosis and understand what kinds of features are more likely, but it usually cannot predict every symptom or exactly how severe it will be for one individual.
Causes and risk factors
For many living with oculoskeletodental syndrome, problems with vision, teeth, and bone growth start because of a gene change that affects development before birth. This change can be inherited from a parent or can happen for the first time in a child. Family history is the main risk factor, and there are no proven lifestyle or environmental causes. That said, risk is only part of the story. The early symptoms of oculoskeletodental syndrome can still vary a lot, even among relatives with the same condition.
What are the most common causes or risk factors?
Oculoskeletodental syndrome is a rare genetic condition, so the main cause is a change in a gene that affects how the eyes, bones, and teeth develop. The biggest known risk factor is family history, because the gene change can be passed down from a parent, although it can also happen for the first time in a child. There are no well-proven lifestyle, diet, or environmental risk factors known to cause it.
Environmental and biological risk factors
For oculoskeletodental syndrome, doctors have not identified clear environmental or non-genetic biological risk factors. If you are looking for known risk factors for oculoskeletodental syndrome, the list is very limited because this is a very rare condition and reported cases do not point to a consistent outside trigger. Awareness of both biological and environmental influences helps you feel prepared.
No well-established link has been found between oculoskeletodental syndrome and exposures such as infections, radiation, air pollution, or chemicals. Current medical evidence does not show a proven outside exposure that raises risk.
Researchers have not confirmed a consistent connection between oculoskeletodental syndrome and common pregnancy-related health factors. Routine illnesses and typical pregnancy complications are not established causes based on current evidence.
Typical birth events, including delivery method or most newborn complications, are not known to increase the chance of oculoskeletodental syndrome. Current evidence does not identify a reliable birth-related trigger.
Oculoskeletodental syndrome is so rare that studies on non-genetic risk factors are limited. This means no specific environmental or body-based risk pattern has been clearly confirmed so far.
Genetic risk factors
When a child is born with the eye, tooth, and bone changes seen in Oculoskeletodental syndrome, the cause is usually a gene change present from conception. Because this condition is very rare, the genetic causes of Oculoskeletodental syndrome are not fully mapped in every family. The strongest known risk factor is a family history of the same syndrome or of a closely similar pattern of birth differences. Some children are the first in their family because the gene change happened new around the time of conception.
Gene change: Oculoskeletodental syndrome appears to result from a harmful change in a gene involved in early development of the eyes, teeth, and bones. This change is present from conception and is not caused by anything parents did or did not do.
Family history: If a parent or close relative has Oculoskeletodental syndrome, the chance of another affected family member can be higher. The exact level of risk depends on the underlying gene and how it is passed down in that family.
Inheritance pattern: In some families, the gene change may be passed from one generation to the next. People with the same risk factor can have very different experiences. Even within one family, signs may be milder in some relatives and more noticeable in others.
New mutation: Sometimes the genetic change starts for the first time in one child, with no earlier family history. This is called a new, or de novo, mutation and can happen by chance.
Testing limits: Because Oculoskeletodental syndrome is so uncommon, doctors may not be able to identify the exact gene in every person. Even so, genetic testing and family review can still help clarify recurrence risk for future pregnancies.
Lifestyle risk factors
Oculoskeletodental syndrome is an inherited disorder, so lifestyle habits do not cause it. Still, how lifestyle affects oculoskeletodental syndrome can be important because daily habits may change the strain on bones and joints, influence dental complications, and affect safety when vision problems are present. The most useful advice is condition-specific and focused on protecting function, comfort, and long-term health.
Low-impact exercise can help maintain muscle strength, joint support, balance, and mobility when skeletal abnormalities are present. High-impact sports or activities with a high fall risk may increase pain, injury, or stress on fragile or misaligned bones and joints.
Carrying excess weight can place added mechanical stress on the hips, knees, spine, and feet, which may worsen discomfort or mobility limits related to skeletal features of the condition. A steady, healthy weight may reduce strain and make movement easier.
Inconsistent brushing, flossing, and dental follow-up can worsen tooth decay, gum disease, and bite problems in people who already have abnormal tooth development. Careful daily oral hygiene and regular dental monitoring can help preserve teeth and function.
Poor intake of calcium, vitamin D, and protein may work against bone and dental health, while a diet high in sugary foods and drinks can further increase cavity risk. Good nutrition supports the tissues most affected in this syndrome, even though it does not change the genetic cause.
Risk prevention
Oculoskeletodental syndrome is a rare genetic condition, so there is no known way to prevent the syndrome itself if the gene change is already present. In practice, prevention is mostly about lowering the risk of complications and spotting problems early, especially with vision, bones, teeth, and hearing. Different people need different prevention strategies—there’s no single formula. For many living with oculoskeletodental syndrome, this can mean regular care that helps protect day-to-day function at school, work, and home.
If oculoskeletodental syndrome runs in a family, genetic counseling can help clarify the chance of passing it on. It can also explain testing options before or during pregnancy in a clear, practical way.
Regular eye exams are one of the most important ways to reduce complications from oculoskeletodental syndrome. Early checks can help catch retinal problems, cataracts, or glaucoma before vision loss becomes more severe.
Falls and joint strain can be harder on people with oculoskeletodental syndrome because bone and skeletal problems may raise the risk of injury. Safe activity, physical therapy guidance, and home safety changes can help protect movement and independence.
Consistent dental visits and daily mouth care may help limit tooth damage and gum problems linked to oculoskeletodental syndrome. If teeth are crowded, fragile, or slow to develop, early treatment planning can make eating and speaking easier.
Can you prevent Oculoskeletodental syndrome?
No, Oculoskeletodental syndrome itself cannot usually be prevented because it is caused by a change in a gene and is present from birth. If this condition runs in your family, genetic counseling before pregnancy can help you understand the chances of passing it on and learn about testing options, but it cannot stop the condition from happening.
Transmission
Oculoskeletodental syndrome is not infectious, so it cannot be caught from another person through touch, coughing, sex, blood, food, or sharing a home. Instead, Oculoskeletodental syndrome is a genetic condition, which means it is linked to a change in a gene present from birth.
When families ask about how Oculoskeletodental syndrome is inherited, the key point is that the gene change may be passed from a parent to a child, or it may happen for the first time in the child as a new genetic change. Because of that, the genetic transmission of Oculoskeletodental syndrome can matter for family planning, and genetic counseling can help explain the chance of it happening again in a specific family.
When to test your genes
If Oculoskeletodental syndrome is suspected because of childhood cataracts, dental differences, hearing loss, or characteristic facial and bone findings, genetic testing can confirm the diagnosis and guide eye, dental, hearing, and family planning care. Testing is also reasonable for close relatives when a familial variant is known.
Diagnosis
For many, the first step comes when vision, teeth, or bone-related concerns seem to cluster rather than happen on their own. Oculoskeletodental syndrome is usually diagnosed by recognizing this pattern on exam and then confirming it with targeted testing. Because it is a rare genetic condition, the diagnosis of Oculoskeletodental syndrome often involves several specialists working together.
Doctors usually begin with a careful physical exam and a full review of symptoms, growth, and development. They look for the combination of eye, skeletal, and dental findings that can point toward Oculoskeletodental syndrome rather than a more common condition.
A detailed family and health history can help show whether similar features have appeared in relatives. Some conditions have a genetic link, meaning they can run in families, although a person may still be the first known case in the family.
A detailed eye exam checks for vision problems and structural changes in the eyes. These findings can be a major clue and may help support the genetic diagnosis of Oculoskeletodental syndrome.
A dentist or orthodontic specialist looks for unusual tooth shape, missing teeth, delayed eruption, or bite problems. Dental findings can help connect symptoms that might otherwise seem unrelated.
How is Oculoskeletodental syndrome diagnosed?
Oculoskeletodental syndrome is usually diagnosed by recognizing a pattern of problems affecting the eyes, bones, and teeth, along with a careful medical history and physical exam. Doctors often use detailed eye and dental checks, plus X-rays or other scans, to look for the changes linked to the condition and to rule out other disorders that can look similar. In some cases, genetic testing may be offered to look for an inherited cause, but the diagnosis is usually based on the full set of findings rather than on one test alone.
Stages of Oculoskeletodental syndrome
Oculoskeletodental syndrome does not have defined progression stages. This is because it is a genetic condition that is usually recognized by a pattern of eye, bone, and dental differences rather than by a steady, step-by-step worsening over time. Doctors usually start with a conversation about the early symptoms of Oculoskeletodental syndrome, a physical exam, eye checks, dental findings, and imaging such as X-rays when needed. Diagnosis is often confirmed with genetic testing, and follow-up focuses on monitoring the specific issues someone has, such as vision, joint or bone concerns, and dental care.
Outlook and prognosis
Outlook in oculoskeletodental syndrome is highly variable and depends on the severity of eye, dental, skeletal, and growth-related problems in each person. Many affected individuals can have a good overall life expectancy, but long-term quality of life may be influenced by reduced vision, orthopedic complications, short stature, and the need for repeated dental or surgical care. Early recognition and coordinated management by ophthalmology, dentistry, orthopedics, and genetics can improve function and help prevent secondary complications. Published information is very limited because the disorder is extremely rare, so precise long-term prognostic data are not well established. No consistent syndrome-specific mortality pattern has been clearly reported, but severe associated complications in an individual case could worsen outcomes.
Long-term effects
For many living with Oculoskeletodental syndrome, the long-term picture is shaped mainly by vision, bone and joint changes, and dental differences. These features are present from early life, but their day-to-day impact can change with age as school, work, and routine activities place different demands on sight, movement, and oral health. Long-term effects vary widely, even within the same family.
Reduced vision is often one of the most important long-term effects of Oculoskeletodental syndrome. Many people have lifelong eye differences that can affect reading, driving, screen use, or judging depth and distance.
Some people develop added eye problems over time, such as pressure-related damage in the eye or changes in the lens and retina. This is one reason early symptoms of Oculoskeletodental syndrome are often followed by long-term eye monitoring.
Teeth may come in late, grow in unusual positions, or have roots and shape differences that can affect biting and chewing over the years. Crowding, delayed loss of baby teeth, and jaw alignment problems may also have lasting effects.
Differences in jaw growth and facial bones can become more noticeable with age. For some, this can affect how the teeth meet, how the face develops, and sometimes speech clarity.
How is it to live with Oculoskeletodental syndrome?
Living with oculoskeletodental syndrome can look very different from one person to another, but for many it means juggling vision problems, dental care, and bone or joint issues that can affect comfort, mobility, and day-to-day routines. Some people need regular visits with eye doctors and dentists, may use glasses or low-vision supports, and may find that school, work, driving, or sports take extra planning. Family members and other close supports are often part of that routine too, helping coordinate appointments, adapting home or school environments, and offering practical and emotional support, but with the right care many people with this condition build full, active lives.
Treatment and drugs
Oculoskeletodental syndrome is usually treated by addressing the eye, bone, joint, and dental problems it causes, since there is no single cure that fixes the underlying genetic change. Treatment plans often combine several approaches. Many people living with Oculoskeletodental syndrome may need regular eye care to protect vision, dental treatment to manage tooth and jaw problems, and physical therapy or pain-relieving medicines to help with stiffness, joint trouble, or limits in movement. Some may also need braces, dental surgery, or orthopedic procedures if bone or joint changes are affecting comfort or day-to-day activities, and the best treatment for Oculoskeletodental syndrome often depends on which early symptoms of Oculoskeletodental syndrome are present and how severe they are.
Can you cure Oculoskeletodental syndrome?
No, there is no cure for oculoskeletodental syndrome at this time. Because it is a genetic condition, treatment cannot fix the underlying cause, but it can help manage problems with vision, teeth, bones and joints, and other symptoms. For many living with this condition, regular care and early treatment can improve comfort, daily function, and quality of life.
Non-drug treatment
Daily care for Oculoskeletodental syndrome usually centers on protecting vision, supporting movement, and keeping the teeth and jaws as healthy as possible. Because this condition can affect several body systems, care is often shared across eye, dental, and rehabilitation specialists. Managing this condition often means building treatment around the problems that affect everyday life most, such as reading, walking comfortably, eating, or speaking clearly. Non-drug care is tailored to each person, since signs of Oculoskeletodental syndrome can vary widely.
Regular follow-up with an eye specialist can help track vision changes and treat problems such as cataracts or other structural eye issues when needed. Low-vision services, updated glasses, and practical tools for school, work, and driving can make daily tasks safer and easier.
Magnifiers, brighter lighting, large-print materials, and screen-reading technology can help many living with Oculoskeletodental syndrome stay independent. Some non-drug options are delivered by specialists, including low-vision therapists who teach ways to read, cook, and move around more safely.
Ongoing dental treatment is often a big part of care, especially if teeth are small, missing, crowded, weak, or slow to come in. Orthodontics, crowns, bridges, implants, or other restorative work may improve chewing, speech, comfort, and appearance.
Some people with Oculoskeletodental syndrome benefit from care focused on the bite and jaw position, especially if eating or speaking feels tiring or awkward. Structured programs, like orthodontic treatment and bite planning, can help improve function over time.
Your genes may have an impact on how drugs work for you
For people living with oculoskeletodental syndrome, treatment usually focuses on day-to-day issues like eye care, dental work, pain control, and sometimes surgery, rather than on one medicine made specifically for the condition. There is no well-established evidence that this syndrome itself changes how common medicines work, but inherited differences between people can still affect how the body handles things like pain medicines, anesthesia used during procedures, or some eye treatments. In real life, this can mean one person gets good relief from a usual dose while another has more side effects or needs closer monitoring, so it helps to tell your care team about past drug reactions and any family history of unusual responses to medicines.
Pharmacological treatments
There is no single medicine that treats Oculoskeletodental syndrome itself, so treatment is usually based on the specific problems someone is dealing with, such as pain, eye complications, or dental infections. Drug treatments aren’t about fixing everything at once, but easing symptoms and helping prevent complications when they arise. Because this condition can vary so much from one person to another, medications for Oculoskeletodental syndrome are chosen case by case.
Acetaminophen or anti-inflammatory medicines such as ibuprofen and naproxen may be used if bone or joint discomfort is part of daily life. These drugs help symptoms rather than the underlying genetic condition. Side effects, if they occur, can often be reduced by adjusting the dose or taking them with medical guidance.
If Oculoskeletodental syndrome is linked with raised eye pressure or glaucoma, doctors may prescribe drops such as timolol, latanoprost, dorzolamide, or brimonidine. These medicines lower pressure inside the eye and may help protect vision over time.
When repeated dental infections or gum problems occur, antibiotics such as amoxicillin, amoxicillin-clavulanate, clindamycin, or metronidazole may be needed depending on the infection and allergy history. They treat active infection but do not correct the tooth and jaw changes of Oculoskeletodental syndrome.
If scans show low bone density or fracture risk, some people may be treated with vitamin D, calcium supplements, or bisphosphonates such as alendronate. These are not routine for everyone with Oculoskeletodental syndrome, but they may be considered when bone weakness is part of the picture.
Genetic influences
Because the eye, bone, and tooth changes in Oculoskeletodental syndrome often show up together from early life, doctors usually look for an inherited cause. Oculoskeletodental syndrome is linked to changes in the COL2A1 gene, which helps make a structural protein needed in cartilage and in parts of the eye, and it is usually inherited in an autosomal dominant pattern. That means one altered copy of the gene can cause the condition, and an affected parent has a 1 in 2, or 50%, chance of passing it to each child. Even with the same gene change, people can have quite different symptoms, from milder dental or joint issues to more serious vision problems. Genetic testing for Oculoskeletodental syndrome can help confirm the diagnosis and give families clearer information about eye checks, treatment planning, and future pregnancies.
Is Oculoskeletodental syndrome genetic?
Genetics are central to oculoskeletodental syndrome. It is usually caused by changes in the GJA1 gene, and these genetic variations help explain why signs can run in families and vary from one person to another.
Having a genetic risk is not necessarily a diagnosis
Genetic variants are a normal part of being human and are widely found in the general population. Most do not directly affect health and are simply part of natural human diversity. For many genes, having a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when several genes and environmental factors are involved. In some situations, though, a single well-characterized variant in a particular gene is enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
For people living with Oculoskeletodental syndrome, treatment is usually shaped around the issues that affect daily life most, such as vision problems, dental changes, bone or joint differences, and growth. Because Oculoskeletodental syndrome is inherited, genetic testing can help confirm the diagnosis and show which parts of the body may need closer follow-up, which helps doctors plan care and referrals more precisely. At this point, there are no well-established drug-response genes or routine pharmacogenetic tests that specifically guide medication choice for Oculoskeletodental syndrome itself. Genetics is only one factor, so medicines used for pain, eye care, dental procedures, or other symptoms are usually chosen based on someone’s age, overall health, and exact features of the condition. The genetic result can also help families recognize early symptoms of Oculoskeletodental syndrome in relatives and understand whether other family members may benefit from evaluation.
Interactions with other conditions
People with Oculoskeletodental syndrome are not known to have a single, predictable pattern of illness interacting with common diseases, but some of its features can overlap with other health problems in ways that affect daily care. Eye changes linked with Oculoskeletodental syndrome, such as severe nearsightedness or other structural eye differences, may occur alongside glaucoma, cataracts, or retinal problems, which can increase the risk of vision loss if they are not watched closely. Bone and joint findings can also resemble other inherited skeletal or connective tissue conditions, so doctors may need to sort out whether new pain, stiffness, or mobility issues are part of the syndrome or a separate disorder. Dental differences may make routine problems like tooth decay or gum disease harder to manage, especially if crowded or unusually shaped teeth make cleaning difficult. Interactions can look very different from person to person, so care is usually centered on regular follow-up with eye, dental, and bone specialists rather than on one specific disease combination.
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 Oculoskeletodental syndrome?
Because oculoskeletodental syndrome can affect the eyes, teeth, and bones, it can sometimes look like other rare inherited conditions with a similar mix of problems. The main ones doctors may think about are oculodentodigital dysplasia, Stickler syndrome, and cleidocranial dysplasia, since these can also cause vision problems, unusual tooth development, and changes in bone growth or joint shape. Depending on the exact signs, they may also consider Hallermann-Streiff syndrome or Axenfeld-Rieger syndrome, especially when eye and dental changes stand out most.
History
People living with Oculoskeletodental syndrome may spend years trying to connect problems that seem unrelated at first, such as vision changes, unusual tooth development, and differences in bone growth. Long before modern testing, doctors and families were already noticing that this particular mix of findings tended to appear together, even if they did not yet have a clear name for it.
As medical science evolved, case reports began to describe people with eye, skeletal, and dental features that followed a recognizable pattern. Early descriptions were often based on what doctors could see on an exam or on X-rays, along with dental records and eye findings, so the condition was understood through its outward features first. This meant the early symptoms of Oculoskeletodental syndrome were sometimes grouped with other rare disorders that affected bones or teeth, especially when the eye changes were mild or had not shown up yet.
Over time, specialists in eye care, orthopedics, dentistry, and genetics compared notes and realized they were often seeing different parts of the same condition. That helped Oculoskeletodental syndrome become more clearly defined as its own syndrome rather than a loose collection of separate symptoms. For many, this can mean that what once felt confusing or fragmented now makes more sense in the context of one diagnosis.
In more recent decades, imaging, improved eye exams, and genetic research helped confirm that Oculoskeletodental syndrome has a biological cause and a characteristic pattern, even though symptoms can vary from one person to another. Some may have more noticeable eye problems, while others first come to medical attention because of tooth or bone differences. That growing understanding has made diagnosis more accurate and has also helped families get more focused care and counseling than was possible in the past.