Joubert syndrome 23 is a rare genetic condition that usually becomes clear in infancy or early childhood. Early signs of Joubert syndrome 23 can include low muscle tone, delays in sitting or walking, unusual eye movements, and problems with balance and coordination. The condition is lifelong, and not everyone will have the same experience. Treatment for Joubert syndrome 23 focuses on supportive care such as physical, occupational, and speech therapy, along with monitoring for breathing, vision, kidney, or liver problems when they occur. Life expectancy can vary with severity and with any related organ complications, but many people living with Joubert syndrome 23 need ongoing medical and developmental support over time.
How many people live with Joubert syndrome 23?
Joubert syndrome overall is estimated to affect about 81,000 to 101,000 people worldwide, and because Joubert syndrome 23 seems to make up only about 2% to 3% of Joubert syndrome cases, depending on the study, this suggests roughly 1,600 to 3,000 people worldwide are living with this form, although that is an estimate rather than a direct count (MedlinePlus Genetics, 2024; GeneReviews, 2017; UN World Population Prospects, 2024). In the United States, Joubert syndrome overall would be about 3,300 to 4,200 people, which suggests roughly 70 to 130 people may be living with Joubert syndrome 23, again as an estimate rather than a direct count (MedlinePlus Genetics, 2024; GeneReviews, 2017; U.S. Census Bureau, 2023).
Overview
Joubert syndrome 23Symptoms
Joubert syndrome 23 usually shows signs in infancy, with low muscle tone, delayed motor development, and unusual eye movements. Many children also have breathing pattern changes early in life. Features can vary, even within the same family.
Outlook and prognosis
For people with Joubert syndrome 23, outlook varies widely: many need ongoing support for balance, coordination, learning, and speech, while some also develop vision, kidney, or liver problems. Life expectancy can be near normal when serious organ complications are absent and breathing issues improve after infancy.
Causes and risk factors
Joubert syndrome 23 is caused by a disease-causing gene change, usually inherited from both parents or sometimes new in the child. Family history raises risk, while lifestyle or environmental factors do not cause Joubert syndrome 23 but may affect complications and day-to-day health.
Genetic influences
Genetics are central to Joubert syndrome 23. It is caused by disease-causing changes in a specific gene, and different variants can affect how severe features are. Genetic testing can help confirm Joubert syndrome 23 and guide family planning.
Diagnosis
Diagnosis of Joubert syndrome 23 usually starts with clinical features and brain imaging findings, especially the molar tooth sign on MRI. Doctors may then confirm the genetic diagnosis of Joubert syndrome 23 with genetic tests.
Treatment and drugs
Treatment for Joubert syndrome 23 focuses on long-term monitoring. Many living with Joubert syndrome 23 benefit from physical, occupational, and speech therapy, with early help for feeding or breathing problems. Regular eye, kidney, and liver checks are important.
Symptoms
Joubert syndrome 23 often becomes noticeable in infancy or early childhood, when a baby seems unusually floppy, has odd breathing spells, or is slower to sit, crawl, or walk. Some of the early features of Joubert syndrome 23 are low muscle tone, poor balance, unusual eye movements, and delays in speech or learning. Features vary from person to person and can change over time. Some children also have problems with vision, the kidneys, or the liver, so the signs are not limited to movement and development.
Babies with low muscle tone can feel floppy when held and may have trouble holding up the head or sitting steadily. For many families, this shows up during feeding, floor play, and other early routines.
Some babies have episodes of very fast breathing, pauses in breathing, or an irregular rhythm, especially in the newborn period. These spells can be unsettling and should be discussed with a doctor right away.
Many people with Joubert syndrome 23 have trouble with balance and coordination because the brain systems that guide smooth movement do not work in the usual way. Walking may look wide-based or unsteady, and stairs, sports, or uneven ground can take more effort.
Sitting, crawling, walking, and other motor milestones often happen later than expected. Some children also need extra time to build skills for dressing, using utensils, or other daily tasks.
How people usually first notice Joubert syndrome 23?
How Joubert syndrome 23 is first noticed often begins in infancy, when families or doctors see unusually low muscle tone, delayed motor milestones such as poor head control or late sitting, and unusual breathing patterns with episodes of fast breathing or pauses. As babies grow, the first signs of Joubert syndrome 23 may also include abnormal eye movements, trouble coordinating movements, and developmental delay, although the exact pattern can vary from child to child. In some families, it is first recognized before or after birth through brain imaging that shows the characteristic “molar tooth sign,” which helps confirm that these early features are part of Joubert syndrome.
Types of Joubert syndrome 23
No distinct types of Joubert syndrome 23 are widely recognized.
Can I slow down the onset of symptoms?
No. Because Joubert syndrome 23 is a genetic condition that affects development before birth, there is no proven way to delay when symptoms start, and lifestyle changes have not been shown to meaningfully slow the beginning of the condition. Early support can still help a lot in daily life: movement therapy, speech and feeding help, and regular checkups for breathing, vision, kidney, and liver problems may help manage symptoms and find complications early, but they do not prevent the condition from starting; even so, getting support early can help many living with Joubert syndrome 23 do as well as possible.
What genetics can tell you about symptoms
In Joubert syndrome 23, genetics can sometimes help explain the symptom pattern, but they usually cannot predict everything a child will experience day to day. Changes in the gene linked to this form of Joubert syndrome are known to affect brain development, so they can influence which features appear, how severe movement, balance, breathing, vision, or developmental problems may be, and when signs first become noticeable, often in infancy or early childhood. Even so, people with the same genetic change can have different symptoms and different levels of support needs, so genetics gives part of the picture rather than the whole story.
Causes and risk factors
When families ask about what causes Joubert syndrome 23, the main cause is a change in both copies of the KIAA0586 gene. This gene helps cells build tiny structures called cilia, and these are important for early brain development and other organs. Joubert syndrome 23 is usually inherited in an autosomal recessive pattern, so family history or parents who are closely related can raise the chance in a pregnancy. Other genes and normal biological differences may affect how strongly the condition shows up, but lifestyle or environmental exposures are not known to be the primary cause. Genetic testing can sometimes clarify your personal risk.
What are the most common causes or risk factors?
Joubert syndrome 23 is usually caused by changes in a gene called CPLANE1, which helps the brain and other parts of the body develop before birth. It most often happens when a child inherits one changed copy of this gene from each parent, so the main risk factors are a family history of the condition, parents who each carry the changed gene without knowing it, or parents who are biologically related, such as cousins, which makes sharing the same gene change more likely. There are no well-known lifestyle, diet, or pregnancy-related causes that commonly lead to this condition.
Environmental and biological risk factors
For Joubert syndrome 23, there are no well-established environmental or non-genetic biological risk factors that doctors can point to as a clear cause. In plain terms, current evidence does not show that a typical illness, exposure, or event during pregnancy reliably increases the chance of this condition. That can be reassuring for families who worry that something they did brought it on.
No specific exposure, such as pollution, radiation, or a commonly encountered chemical, has been consistently shown to increase the chance of Joubert syndrome 23. Researchers continue to study this, but there is no proven outside trigger at this time.
Common pregnancy-related body factors, including routine infections, stress, or delivery events, have not been shown to specifically raise the likelihood of Joubert syndrome 23. For families asking what causes Joubert syndrome 23, this means self-blame is usually not supported by the evidence.
Genetic risk factors
For families living with Joubert syndrome 23, the main cause is a change in a gene called KIAA0586, which helps tiny cell structures called cilia work properly during early development. Joubert syndrome 23 is usually inherited, not caused by anything a parent did or did not do. Some risk factors are inherited through our genes. Learning about the genetic causes of Joubert syndrome 23 can help when thinking about testing and future pregnancies.
KIAA0586 changes: Changes in the KIAA0586 gene are the known genetic cause of Joubert syndrome 23. This gene helps cells build and use primary cilia, which are important for normal brain and body development.
Recessive inheritance: Joubert syndrome 23 usually happens when a child inherits two altered copies of KIAA0586, one from each parent. This inheritance pattern is called autosomal recessive.
Carrier parents: When both parents carry one altered KIAA0586 copy, each pregnancy has a 1 in 4, or 25%, chance of Joubert syndrome 23. There is also a 1 in 2, or 50%, chance the child will be a healthy carrier.
Family history: Having a child or close relative with Joubert syndrome 23 raises the chance that other family members could also carry the same gene change. Genetic counseling can help clarify who in the family may want carrier testing.
Related parents: If parents are related by blood, they are more likely to carry the same rare genetic change. That can raise the chance of autosomal recessive conditions such as Joubert syndrome 23.
Lifestyle risk factors
Joubert syndrome 23 is a genetic condition, so lifestyle habits do not cause it. Still, how lifestyle affects Joubert syndrome 23 can matter for balance, breathing, feeding, sleep, and the risk of complications. Day-to-day routines are usually most helpful when they are tailored to the person’s neurologic, developmental, and organ-related features.
Regular, supervised movement can help maintain strength, coordination, and joint mobility in people with Joubert syndrome 23. Balance-focused therapy and adapted exercise may reduce deconditioning and support safer walking, transfers, and daily activities.
Good nutrition can be important when low muscle tone, oral-motor problems, or feeding difficulties make eating inefficient. Poor intake or unplanned weight gain can worsen fatigue, mobility, and overall function, so meals often need to match swallowing ability and energy needs.
Consistent sleep routines may help reduce daytime fatigue and improve attention, mood, and participation in therapy. Because some people with Joubert syndrome can have abnormal breathing during sleep, worsening snoring, pauses in breathing, or restless sleep should prompt medical review.
Excess weight can place extra strain on weak muscles and unstable gait, making balance and mobility harder. In people with kidney, liver, or breathing involvement, maintaining a healthy weight may also help limit additional stress on affected organs.
Risk prevention
Joubert syndrome 23 cannot usually be prevented because it is an inherited condition present from early development. For many living with Joubert syndrome 23, prevention means lowering the risk of complications, spotting problems early, and supporting day-to-day function. Different people need different prevention strategies—there’s no single formula. In families with a known genetic change, genetic counseling can also help clarify the chance of Joubert syndrome 23 in a future pregnancy.
If Joubert syndrome 23 runs in your family, genetic counseling can help explain recurrence risk and testing options before or during pregnancy. This cannot change the condition in someone who already has it, but it may help families make informed choices.
Ongoing care with a pediatrician or other specialists can help catch kidney, liver, vision, breathing, or developmental problems early. Early monitoring is one of the best ways to reduce the risk of complications from Joubert syndrome 23.
Some babies and children with Joubert syndrome 23 have abnormal breathing patterns or sleep-related breathing problems. Sleep evaluation, prompt treatment of infections, and quick medical review for pauses in breathing can help prevent serious complications.
Trouble with sucking, swallowing, or coordination can raise the risk of choking or food going into the lungs. Feeding therapy, position changes, and nutrition support may help protect growth and lower the chance of aspiration.
Can you prevent Joubert syndrome 23?
Joubert syndrome 23 cannot usually be prevented, because it is caused by a change in a gene before birth and is not due to anything parents did or did not do. There are no proven lifestyle steps that can stop it from happening. If it runs in your family, a genetics doctor or counselor can explain the chance in a future pregnancy and talk through testing options before or during pregnancy.
Transmission
Joubert syndrome 23 is a genetic condition, so it is not contagious and cannot be passed from one person to another through contact, coughing, sex, food, or the environment. When people ask about the genetic transmission of Joubert syndrome 23, it is usually inherited because a child receives one nonworking copy of the related gene from each parent, who are often healthy carriers and may not know they carry it.
For each pregnancy between the same two carrier parents, there is a 1 in 4, or 25%, chance the baby will have Joubert syndrome 23. In some families, the gene change may happen for the first time in the child, but this is less common.
When to test your genes
Genetic testing is usually considered when a child has signs of Joubert syndrome, such as low muscle tone, developmental delay, abnormal breathing or eye movements, or the characteristic brain MRI finding. It confirms the diagnosis, can identify Joubert syndrome 23, guide organ screening, and clarify family recurrence risk.
Diagnosis
Joubert syndrome 23 is usually suspected when a baby or child has a pattern of developmental differences, such as low muscle tone, delayed motor skills, unusual eye movements, or breathing changes early in life. Doctors then look for a specific brain finding on imaging and use genetic testing to confirm the diagnosis of Joubert syndrome 23. Getting a diagnosis is often a turning point toward answers and support.
Doctors ask about pregnancy, birth, early development, feeding, breathing, vision, and movement. A detailed family and health history can help show whether similar features may run in the family.
The exam looks for signs often seen in Joubert syndrome, including low muscle tone, balance problems, unusual eye movements, and delays in sitting, crawling, or walking. Doctors also check growth, head size, and other body features that may point to related conditions.
MRI is one of the most important tests because it can show the molar tooth sign, a brain pattern strongly linked with Joubert syndrome. This imaging finding helps support the genetic diagnosis of Joubert syndrome 23 when symptoms suggest it.
A blood or saliva test can look for changes in the gene linked to Joubert syndrome 23. Genetic testing may also help confirm the diagnosis, clarify inheritance, and guide family counseling.
How is Joubert syndrome 23 diagnosed?
Doctors usually diagnose Joubert syndrome 23 by looking at a child’s development and day-to-day symptoms, such as low muscle tone, poor balance, unusual eye movements, and sometimes breathing changes in infancy, and by doing a brain MRI. The MRI often shows a very specific shape in the part of the brain that helps control movement and balance, known medically as the “molar tooth sign,” and this is a key clue. Genetic testing can then help confirm the diagnosis by finding the exact gene change linked to this type of Joubert syndrome.
Stages of Joubert syndrome 23
Joubert syndrome 23 does not have defined progression stages. That is because it is a genetic condition identified by a pattern of brain development and related symptoms, rather than an illness that moves through clear step-by-step phases over time. Doctors usually start with a conversation about development, movement, breathing, vision, and feeding, since the early symptoms of Joubert syndrome 23 often appear in infancy or early childhood. Diagnosis and follow-up usually involve a physical exam, brain imaging such as MRI, and checks of vision, kidney, and liver health, because the features and their severity can vary from one person to another.
Outlook and prognosis
The outlook for people with Joubert syndrome 23 is highly variable and depends on how strongly the brain, breathing, vision, kidneys, and liver are affected. Many children survive into adulthood, and some achieve walking, speech, and a degree of independence, but developmental delay, ataxia, eye movement problems, and intellectual disability are common and can range from mild to severe. Prognosis is generally better when major kidney, liver, or severe feeding and breathing complications are absent. Mortality is highest in infancy and early childhood for those with serious respiratory instability or major multisystem involvement, while later health risks are often tied to progressive kidney or liver disease if these are present. With early developmental therapies, careful neurologic follow-up, and regular screening for renal, hepatic, and ophthalmologic complications, outcomes for Joubert syndrome 23 can often be optimized.
Long-term effects
For many families, the long-term picture with Joubert syndrome 23 is shaped by how the brain, eyes, movement, and sometimes other organs are affected over time. Features can range from mild to more significant, so two people with Joubert syndrome 23 may have very different day-to-day needs. Long-term effects vary widely, and some are most noticeable in childhood while others become clearer later on.
Many living with Joubert syndrome 23 have lasting delays in sitting, walking, speech, and learning. Some later gain these skills slowly, while others continue to need substantial support in school and daily life.
Poor coordination and an unsteady walk often remain long term because balance control is affected. In everyday life, this can mean frequent stumbling, trouble on stairs, or needing extra time for tasks that require fine hand movements.
Low muscle tone in infancy may continue into childhood and adulthood as reduced strength and endurance. Some people with Joubert syndrome 23 tire more easily, have loose joints, or find posture and physical activities harder to maintain.
Fast, jerky, or limited eye movements can make visual tracking difficult over the years. This may affect reading, following moving objects, and some early symptoms of Joubert syndrome include trouble fixing the eyes steadily, especially in infancy.
How is it to live with Joubert syndrome 23?
Living with Joubert syndrome 23 can look very different from one person to the next, but many people need ongoing support with balance, coordination, muscle tone, vision, learning, and day-to-day tasks, especially from childhood onward. For many families, daily life includes therapy visits, school or work accommodations, help with communication or mobility, and close follow-up for related health issues such as breathing changes in infancy or problems affecting the eyes, kidneys, or liver in some people. This can place extra emotional, physical, and financial demands on parents, siblings, and other caregivers, yet with steady support and the right services, many people with Joubert syndrome build meaningful routines, relationships, and a strong sense of independence in the areas that are possible for them.
Treatment and drugs
Joubert syndrome 23 does not have a cure, so treatment focuses on the problems it causes, such as low muscle tone, balance trouble, delayed development, abnormal breathing in infancy, and vision or kidney issues when these are present. Treatment plans often combine several approaches, including physical, occupational, and speech therapy, early developmental support, and regular checkups with specialists to watch breathing, eyesight, kidney health, and growth. There is no single drug that treats Joubert syndrome 23 itself, but medicines may be used for specific symptoms, such as seizures, sleep problems, or breathing-related issues, depending on what each child or adult is experiencing. Because early symptoms of Joubert syndrome 23 can vary widely from one person to another, care is usually individualized and may change over time as needs become clearer.
Can you cure Joubert syndrome 23?
No, there is no cure for Joubert syndrome 23 at this time. Treatment cannot remove the underlying genetic cause, but it can help manage the problems it may cause, such as delays in movement and learning, breathing issues, and vision, kidney, or liver problems. Many people living with Joubert syndrome 23 benefit from early therapies, regular checkups, and care from different specialists to improve daily life and support development.
Non-drug treatment
Daily care for Joubert syndrome 23 usually centers on therapies and practical supports that help with movement, learning, communication, breathing, and vision. Because symptoms can vary a lot from one person to another, treatment is usually tailored over time and often starts in infancy or early childhood. For many, treatment begins not at the pharmacy, but with early intervention services, school supports, and regular therapy visits. Not every approach works the same way, so care is often adjusted as needs change.
Physical therapy helps build balance, strength, coordination, and safer movement. For many children, physical therapy for Joubert syndrome 23 starts early to support sitting, standing, walking, and everyday play.
Occupational therapy focuses on daily skills like dressing, eating, handwriting, and using the hands more smoothly. It can also help with posture, adaptive equipment, and ways to make home or school tasks easier.
Speech and language therapy can support speaking, understanding, and social communication. If speech is limited, therapists may suggest communication devices or picture-based systems so people with Joubert syndrome 23 can express their needs more easily.
Some may find feeding is tiring or hard because of low muscle tone, poor coordination, or swallowing problems. Feeding therapy and nutrition support can help with safer eating, better growth, and practical changes in food texture or positioning.
Your genes may have an impact on how drugs work for you
For people living with Joubert syndrome 23, treatment usually focuses on managing day-to-day problems like breathing changes, movement issues, seizures, or kidney and liver concerns, rather than using one medicine aimed at the condition itself. At this time, there are no widely accepted gene-based medication rules that are specific to Joubert syndrome 23, so medicine choices are usually guided by symptoms, age, and how well the kidneys and liver are working, since these can affect how the body handles drugs.
Pharmacological treatments
Treatment for Joubert syndrome 23 usually focuses on the problems it causes in day-to-day life rather than on the gene change itself. There is no medication that cures or reverses Joubert syndrome 23 at this time. Drugs that target symptoms directly are called symptomatic treatments, and the best choice depends on whether someone is dealing with seizures, hormone problems, kidney disease, or other complications.
There is no approved medicine that treats the underlying cause of Joubert syndrome 23. For many living with Joubert syndrome 23, medicines are chosen to manage complications and improve comfort, safety, and daily function.
If seizures are part of Joubert syndrome 23, doctors may use anti-seizure drugs such as levetiracetam, oxcarbazepine, valproic acid, or clobazam. The best option depends on the seizure type, age, and side effect profile, especially if early symptoms of Joubert syndrome 23 included unusual movements or staring spells.
Some people with Joubert syndrome 23 develop hormone problems linked to pituitary dysfunction, and treatment depends on which hormone is low. Medicines may include hydrocortisone for adrenal insufficiency, levothyroxine for low thyroid hormone, desmopressin for diabetes insipidus, or growth hormone in selected children.
If Joubert syndrome 23 affects the kidneys, medicines may be used to control high blood pressure and reduce strain on the kidneys. Common examples include ACE inhibitors such as lisinopril or enalapril, or angiotensin receptor blockers such as losartan.
Genetic influences
For families living with Joubert syndrome 23, one of the first questions is often why it happened and whether it could affect another child. This specific form of Joubert syndrome is caused by harmful changes in the KIAA0586 gene, which helps the body build tiny cell structures called cilia that are important for early brain and body development. Joubert syndrome 23 is usually inherited in an autosomal recessive pattern, so a child develops it only after receiving one changed copy of the 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 1 in 4 chance of resulting in a child with Joubert syndrome 23. Genetic testing for Joubert syndrome 23 can help confirm the diagnosis, clarify the chance for future children, and identify relatives who may also be carriers.
Is Joubert syndrome 23 genetic?
Genetics are central to Joubert syndrome 23. It is caused by disease-causing changes in a specific gene, and different variants can affect how severe features are. Genetic testing can help confirm Joubert syndrome 23 and guide family planning.
Having a genetic risk is not necessarily a diagnosis
Genetic variants are common in the general population and are a normal part of human biology. Most do not directly affect health and simply reflect natural differences among people. For many genes, having a variant connected with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors also contribute. In some situations, though, a single well-understood variant in a particular gene is enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
Joubert syndrome 23 is not treated with one standard drug, so the exact genetic change mainly helps doctors predict which parts of the body may need the most attention, such as the brain, eyes, kidneys, or liver. For families asking how genetics affect treatment for Joubert syndrome 23, the answer is often that genetic results shape the care plan and help the team choose medicines more carefully rather than pointing to one specific medicine that fixes the condition. If a child with Joubert syndrome 23 also has kidney or liver problems, some medicines may need different doses or closer monitoring because the body may clear them more slowly. Many living with Joubert syndrome 23 also need extra caution with sedatives, seizure medicines, or other drugs that can slow breathing, especially if they already have breathing control problems or low muscle tone. Genetics is only one factor, but in Joubert syndrome 23 it can help doctors tailor therapy, watch for side effects, and decide which specialists should be involved over time.
Interactions with other conditions
People living with Joubert syndrome 23 may have health issues that affect more than one body system, so symptoms do not always come from the brain and balance problems alone. This connection brings us to how the condition interacts with others: some may also develop kidney disease, liver problems, or eye conditions, because Joubert syndrome 23 belongs to a group of disorders that can affect tiny cell structures in many organs. In daily life, that can mean a child who already has low muscle tone or coordination trouble also needs follow-up for worsening vision or signs of kidney strain. Breathing abnormalities, feeding difficulties, and sleep-related breathing problems can also add to the picture, especially in infancy and early childhood. The presence of these related conditions does not always mean they will be severe, but regular checks are important because early symptoms of kidney or eye disease can be easy to miss at first. When more than one specialist is involved, coordinated care can help families understand which symptoms are linked to Joubert syndrome 23 and which may need separate 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 Joubert syndrome 23?
Joubert syndrome 23 can look a lot like other conditions that affect brain development and movement, especially in babies and young children with low muscle tone, delayed development, unusual eye movements, or problems with balance and breathing. Doctors often also consider other forms of Joubert syndrome, Dandy-Walker malformation, cerebral palsy, and some inherited conditions that affect balance and coordination. Brain scans and genetic testing are often used to tell these apart.
History
Families may first notice that a baby seems unusually floppy, has rapid or uneven breathing spells, or is slower to reach early milestones such as holding up the head or sitting. For many living with Joubert syndrome 23, the story begins with these everyday concerns rather than with a diagnosis, and it often takes time before doctors recognize that the different symptoms are part of the same condition.
Joubert syndrome was first described in 1969 by neurologist Dr. Marie Joubert and colleagues, who reported children with poor muscle tone, unusual breathing patterns, abnormal eye movements, and developmental delay. As brain imaging improved over the following decades, doctors began to see a consistent pattern in the back part of the brain, which helped distinguish Joubert syndrome from other causes of low muscle tone and delayed development. Over time, descriptions became more precise, and what had once seemed like a single rare disorder was recognized as a broader group of related conditions.
Joubert syndrome 23 is one of the numbered forms identified later, after researchers learned that people with Joubert syndrome can have similar core features but different underlying biological causes. This numbering reflects how medical understanding grew: first from symptoms, then from brain scan findings, and later from genetic research. In recent decades, awareness has grown, and this has helped more families get a clearer explanation for early symptoms of Joubert syndrome, along with better support for vision, movement, learning, and other health needs that may be involved. Not every early description was complete, yet together they shaped the way Joubert syndrome 23 is recognized today.