Temple syndrome due to maternal uniparental disomy of chromosome 14 is a rare genetic condition that affects growth, development, and puberty. Early signs of Temple syndrome often include low muscle tone, feeding problems in infancy, short stature, small hands and feet, and weight gain later in childhood. Temple syndrome is lifelong, and it is usually recognized in infancy or childhood, although some people are diagnosed later. Not everyone will have the same experience, but many living with Temple syndrome can also have learning, behavior, or hormone-related differences. Treatment focuses on long-term support, such as nutrition help, physical and developmental therapies, and hormone or puberty care, and many people with Temple syndrome live into adulthood.
How many people live with Temple syndrome due to maternal uniparental disomy of chromosome 14?
This form of Temple syndrome is extremely rare. Orphanet classifies maternal uniparental disomy of chromosome 14 as affecting fewer than 1 in 1,000,000 people, which suggests fewer than about 8,100 people worldwide (Orphanet, 2024; United Nations, 2024) and fewer than about 340 people in the United States (Orphanet, 2024; U.S. Census Bureau, 2024); these are rough estimates, not direct counts.
Overview
Temple syndrome due to maternal uniparental disomy of chromosome 14Symptoms
Temple syndrome often causes low muscle tone, feeding problems, and slow growth in infancy. Later, many children have short height, early puberty, and smaller hands or feet. Learning and behavior differences can also occur.
Outlook and prognosis
With Temple syndrome due to maternal uniparental disomy of chromosome 14, many people live into adulthood, but growth, puberty, learning, and weight often need ongoing support. Outlook is usually best with early treatment and regular follow-up.
Causes and risk factors
Temple syndrome due to maternal uniparental disomy of chromosome 14 happens when both copies of chromosome 14 come from the mother instead of one from each parent. It is usually a random event around conception, with very low recurrence risk in most families.
Genetic influences
Genetics are central to Temple syndrome due to maternal uniparental disomy of chromosome 14, because it is caused by a specific chromosome imprinting change. Most cases are not inherited in the usual way, so recurrence risk is often low but needs genetic counseling.
Diagnosis
Diagnosis of Temple syndrome due to maternal uniparental disomy of chromosome 14 usually starts with clinical features such as poor growth, early puberty, or low muscle tone. Genetic tests confirm the diagnosis.
Treatment and drugs
Treatment for Temple syndrome due to maternal uniparental disomy of chromosome 14 usually focuses on growth, puberty, feeding, and muscle tone. Many need nutrition support, physical therapy, and monitoring for early puberty; some may benefit from hormone treatment.
Symptoms
Temple syndrome due to maternal uniparental disomy of chromosome 14 can look different from one child to another, but many families first notice low muscle tone, slow growth, or feeding trouble. Some children are small at birth or fall behind on height later, while others come to attention when puberty starts unusually early. The early features of Temple syndrome due to maternal uniparental disomy of chromosome 14 are often subtle at first, blending into daily life until they become more noticeable. Development and learning are often only mildly affected, but extra support can still make a real difference.
Many babies with Temple syndrome are smaller than expected before birth and may have a low birth weight. Some continue to grow more slowly after birth and remain shorter than other children their age.
Babies may feel floppy when held and can tire quickly during feeds or play. Low muscle tone can also delay sitting, crawling, and walking.
Infants often feed slowly, have a weak suck, or need frequent breaks to finish a bottle or breastfeed. Early feeding problems can make it harder to gain weight steadily.
Many living with Temple syndrome are shorter than expected in childhood. This can become more noticeable over time, especially if puberty starts early.
How people usually first notice Temple syndrome due to maternal uniparental disomy of chromosome 14?
Temple syndrome due to maternal uniparental disomy of chromosome 14 is often first noticed before birth or soon after, when ultrasound or newborn exams show poor growth, low muscle tone, or feeding difficulties. As infancy and early childhood unfold, many living with Temple syndrome are recognized because they stay smaller than expected, reach motor milestones later, and may develop early puberty, especially in girls. In other words, the first signs of Temple syndrome are usually a pattern of growth, tone, and development differences that prompt doctors to look more closely and confirm the diagnosis with genetic testing.
Types of Temple syndrome due to maternal uniparental disomy of chromosome 14
No distinct types of Temple syndrome due to maternal uniparental disomy of chromosome 14 are widely recognized.
Can I slow down the onset of symptoms?
No. Temple syndrome due to maternal uniparental disomy of chromosome 14 is a genetic condition that is present from the start of life, and there is no good evidence that lifestyle changes or medical treatment can meaningfully delay when symptoms begin. Healthy habits may still help with overall well-being, strength, and weight, but they do not prevent the condition or stop its main features from appearing; what is most helpful is early follow-up to watch growth, puberty, feeding, and learning so support can start quickly. That cannot promise a later onset, but it can help many living with Temple syndrome stay as healthy and supported as possible.
What genetics can tell you about symptoms
In Temple syndrome caused by maternal uniparental disomy of chromosome 14, the genetic change itself is strongly linked to the pattern of symptoms, so it can help explain why many living with this condition have low muscle tone and feeding problems early in life, followed later by short height, weight gain, and often early puberty. Genetics can also give some clues about timing, because these features often start in infancy or childhood, but it usually cannot predict exactly which symptoms will happen in any one child or how severe they will be. Even among people with the same genetic cause, symptoms can vary, so genetic results are most helpful for understanding the overall tendency rather than forecasting a precise course.
Causes and risk factors
Temple syndrome due to maternal uniparental disomy of chromosome 14 happens when a child receives both copies of chromosome 14 from the mother and none from the father. This changes the activity of a small group of genes that normally work differently depending on which parent they come from. In most families, the genetic cause of Temple syndrome is a random event in the egg or very early embryo, so it is not caused by anything a parent did before or during pregnancy. Lifestyle and environmental factors are not known to cause this form of Temple syndrome, but they can still affect growth, weight, puberty, and day-to-day health over time. The chance of it happening again is usually low, though a genetics specialist may suggest family testing in some cases.
What are the most common causes or risk factors?
Temple syndrome due to maternal uniparental disomy of chromosome 14 happens when, by chance, a baby gets both copies of chromosome 14 from the mother and none from the father, which changes how a small group of growth-related genes are turned on and off. This usually starts with a random chromosome mix-up in the egg or very early after fertilization, and it is usually not inherited or caused by anything parents did. Very rarely, the chance is higher if a parent carries a balanced chromosome change involving chromosome 14, but most cases happen out of the blue.
Environmental and biological risk factors
Temple syndrome due to maternal uniparental disomy of chromosome 14 usually begins with a rare chromosome event around conception, not with anything a parent did. Some risks are carried inside the body, others come from the world around us. When doctors talk about biological and environmental risk factors for Temple syndrome due to maternal uniparental disomy of chromosome 14, the strongest evidence points to biological events, and no specific environmental trigger has been proven.
A mix-up when chromosome 14 separates in the egg is a key biological risk. This can set up the abnormal chromosome pattern that later leads to this condition.
Many cases arise after an embryo briefly has an extra chromosome 14 and then corrects itself very early. If the father's copy is the one that is lost, the embryo can be left with the chromosome pattern behind this form of Temple syndrome.
Older maternal age can increase the chance of chromosome separation errors in the egg. That may raise the likelihood of the rare chromosome event that causes Temple syndrome due to maternal uniparental disomy of chromosome 14, although the condition remains very uncommon.
No medicine, infection, pollutant, or other outside exposure has been clearly proven to cause this condition. Current evidence suggests these cases are driven mainly by spontaneous chromosome events rather than environmental triggers.
Genetic risk factors
For families trying to understand why this happened, the genetic causes of Temple syndrome due to maternal uniparental disomy of chromosome 14 usually trace back to a chromosome mix-up around conception. Instead of getting one chromosome 14 from each parent, the child receives both copies from the mother and no paternal copy. This matters because part of chromosome 14 is controlled by imprinting, a system that turns certain genes on or off depending on whether they came from the mother or father. Knowledge can help families feel more prepared and less anxious.
Two maternal copies: The main genetic cause is receiving both copies of chromosome 14 from the mother instead of one from each parent. That changes the normal pattern of gene activity and leads to Temple syndrome.
Imprinting imbalance: Some genes on chromosome 14 are meant to work differently depending on whether they came from the mother or the father. When both copies are maternal, this balance is lost, especially in the 14q32 region.
Trisomy rescue: In many cases, the pregnancy begins with three copies of chromosome 14 instead of two. An early rescue event can remove the extra paternal copy, leaving two maternal copies behind.
Random cell error: This chromosome mix-up usually happens by chance when the egg forms or in the very early embryo. Most families did nothing to cause it, and it is usually not passed down in the usual inherited way.
Parental rearrangement: Rarely, a parent carries a balanced chromosome rearrangement involving chromosome 14, such as a Robertsonian translocation. This can raise the chance of unusual chromosome inheritance and make maternal uniparental disomy 14 more likely.
Recurrence risk: The chance of this happening again is often low when the event was truly random. Risk can be higher if testing shows a parental chromosome rearrangement involving chromosome 14.
Lifestyle risk factors
Temple syndrome due to maternal uniparental disomy of chromosome 14 is a genetic condition, so lifestyle habits do not cause it. Still, how lifestyle affects Temple syndrome can be important because daily habits may change weight gain, muscle strength, feeding patterns, bone health, and day-to-day function. The most relevant factors usually relate to nutrition, physical activity, sleep, and routines that support development and puberty-related health.
Energy-dense foods, sugary drinks, and large portions can worsen the tendency toward excess body fat that many people with Temple syndrome develop. A structured, balanced eating pattern may help limit rapid weight gain and reduce later metabolic strain.
Regular movement can help counter low muscle tone, reduced fitness, and increasing body fat in Temple syndrome. Strength-building and weight-bearing exercise may also support posture, mobility, and bone health during growth.
Long periods of sitting and high screen time can make weight management and physical conditioning harder in Temple syndrome. Breaking up inactivity with short bouts of movement may improve stamina and help preserve muscle function.
Poor sleep routines can worsen daytime fatigue, appetite control, and behavior, which may complicate weight and symptom management in Temple syndrome. Consistent sleep timing and evaluation of snoring or disturbed sleep may be especially useful if obesity develops.
Risk prevention
Temple syndrome due to maternal uniparental disomy of chromosome 14 cannot usually be prevented, because it starts from a change in how chromosome 14 is inherited before birth. For many living with Temple syndrome due to maternal uniparental disomy of chromosome 14, prevention is mostly about lowering the risk of complications and supporting growth, puberty, movement, and day-to-day health. Prevention is flexible—it adapts to your life and health background. Early, regular care can also help pick up problems before they cause more disruption at home, at school, or in daily routines.
Ongoing care with a pediatrician and the right specialists can help catch growth, feeding, weight, or puberty concerns early. This can lower the chance that small issues become bigger problems over time.
Careful tracking of height, weight, and body composition helps guide nutrition and activity plans for people with Temple syndrome. This can also help doctors spot early symptoms of Temple syndrome that may need extra support, such as poor growth in childhood or rapid weight gain later on.
Balanced meals and early advice from a dietitian can help support growth in infancy and reduce later overweight or obesity risk. Some may find that structured meal routines are especially helpful if appetite, low muscle tone, or slow growth has made eating patterns uneven.
Regular physical activity can help with strength, stamina, balance, and weight management in many living with Temple syndrome. Alongside medical care, everyday habits also matter.
Can you prevent Temple syndrome due to maternal uniparental disomy of chromosome 14?
No, Temple syndrome due to maternal uniparental disomy of chromosome 14 usually cannot be prevented. It happens because of a random change in how chromosome 14 is passed on before birth, and there is no known way to stop that from happening. If you are worried because of a family history or a past pregnancy, talking with a genetics specialist can help you understand the chances and testing options, but it cannot prevent the condition itself.
Transmission
Temple syndrome due to maternal uniparental disomy of chromosome 14 is not spread from person to person, so it is not infectious or contagious. It happens when a baby receives both copies of chromosome 14 from the mother instead of one copy from each parent, usually because of a random event during the formation of the egg, sperm, or very early embryo.
That means the genetic transmission of Temple syndrome due to maternal uniparental disomy of chromosome 14 is usually not a simple inherited pattern, and most parents did nothing to cause it. In many families, the chance of it happening again is low, but a genetics specialist may recommend testing because a rare chromosome change in a parent can sometimes increase the risk.
When to test your genes
Genetic testing is usually considered when a child has a pattern of early puberty, low muscle tone, feeding or growth concerns, short stature, or learning and behavioral differences that suggest Temple syndrome. A confirmed diagnosis can guide growth, puberty, developmental, and nutrition care, and it can help clarify recurrence risk for the family.
Diagnosis
Temple syndrome due to maternal uniparental disomy of chromosome 14 is often first suspected when a child has a recognizable pattern of growth, feeding, puberty, and learning differences rather than one single symptom. Babies may be small before birth or have low muscle tone and feeding trouble early on, while older children may develop short stature, rapid weight gain, or unusually early puberty. Getting a diagnosis is often a turning point toward answers and support, and the diagnosis of Temple syndrome is confirmed with specific genetic testing.
Doctors look at the overall pattern of findings, such as poor growth before birth, low muscle tone, feeding difficulties, small hands or feet, and early puberty. No single feature proves the condition, but the combination can raise strong suspicion for Temple syndrome.
Care teams often review birth size, growth charts, weight changes, and pubertal timing over time. This helps show whether the pattern fits Temple syndrome rather than a more common growth or hormone problem.
A detailed family and health history can help identify whether similar features have appeared in relatives and whether another inherited condition is more likely. In Temple syndrome due to maternal uniparental disomy of chromosome 14, the genetic change usually happens by chance rather than being passed down in a typical way.
This is usually the key first genetic test because it checks the chromosome 14 region for the parent-of-origin pattern expected in Temple syndrome. It can show whether the active and silent signals in this region are not balanced in the usual way.
How is Temple syndrome due to maternal uniparental disomy of chromosome 14 diagnosed?
Doctors usually suspect Temple syndrome when a child has a recognizable pattern of signs, such as low muscle tone and feeding trouble in infancy, slow growth, and often puberty starting earlier than expected. The diagnosis is confirmed with genetic testing on a blood sample, usually by checking the chemical tags on chromosome 14 and whether both copies of this chromosome came from the mother instead of one from each parent. Sometimes doctors also do other genetic tests to rule out conditions that can look similar.
Stages of Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to maternal uniparental disomy of chromosome 14 does not have defined progression stages. This is because it is a genetic condition that is present from early life, and while its features can change with age, it does not usually follow a fixed step-by-step pattern of worsening. Often the process begins when you notice changes in daily life, such as slow growth, early puberty, low muscle tone, or learning and behavior differences, which can prompt a Temple syndrome diagnosis. Doctors usually confirm Temple syndrome with a clinical assessment and genetic testing, and follow-up over time focuses on growth, development, puberty, and metabolic health rather than staging the condition.
Outlook and prognosis
Outlook is often favorable for survival, and life expectancy is generally thought to be near normal because Temple syndrome due to maternal uniparental disomy of chromosome 14 is not usually associated with progressive organ failure or a known increase in mortality. Prognosis depends mainly on the severity of growth failure, early puberty, low muscle tone, feeding difficulties, and learning or behavioral challenges, all of which can vary widely from person to person. With timely endocrine care, nutritional support, physical and occupational therapy, and educational interventions, many affected children make meaningful developmental gains and can function well into adulthood. Short stature and pubertal or reproductive issues may persist, and some individuals continue to need support for school performance, social development, or independent living. Long-term quality of life is often improved by early recognition and coordinated multidisciplinary follow-up. Because the disorder is rare, published long-term outcome data are limited, but available reports do not suggest a markedly shortened lifespan.
Long-term effects
Temple syndrome due to maternal uniparental disomy of chromosome 14 can affect growth, puberty, learning, and body composition over many years. Long-term effects vary widely, but many living with Temple syndrome share a similar pattern of shorter height, early puberty, and a tendency to gain extra body fat. In childhood, this may look like a child who stays small for age but seems to enter puberty sooner than classmates. As people get older, the main long-term picture is usually shaped by growth, hormone-related changes, and day-to-day developmental needs.
Many people with Temple syndrome remain shorter than expected into adult life. This often reflects slower growth in early childhood followed by early puberty, which can cause growth plates to close sooner.
Puberty often starts earlier than usual in Temple syndrome, sometimes first noticed as breast development, pubic hair, or rapid body changes at a young age. Early symptoms of Temple syndrome may include this pattern along with poor growth, and the earlier timing can further limit adult height.
Many living with Temple syndrome develop increased body fat over time, especially around the trunk. Some may have a lower muscle mass as well, which can make weight gain easier even when eating patterns seem similar to those of other family members.
Low muscle tone can affect movement, posture, and stamina from infancy into later childhood. For many, this can mean seeming floppy as a baby, tiring quickly with physical activity, or taking longer to build strength and coordination.
How is it to live with Temple syndrome due to maternal uniparental disomy of chromosome 14?
Living with Temple syndrome due to maternal uniparental disomy of chromosome 14 can look very different from one person to another, but for many it means early challenges with low muscle tone, feeding, growth, and later-onset issues such as short stature, early puberty, learning difficulties, or a tendency to gain weight more easily. In daily life, this can mean needing extra support with eating and physical activity in early childhood, regular visits with endocrinology and developmental specialists, and school accommodations if attention, speech, or learning are affected. Families and other close supports are often deeply involved in appointments, routines, and advocacy, which can be demanding, but with steady care and the right supports, many people with Temple syndrome build satisfying routines and make meaningful progress over time.
Treatment and drugs
Treatment for Temple syndrome due to maternal uniparental disomy of chromosome 14 is based on the problems each child or adult is having, because there is no single medicine that fixes the underlying genetic change. Care usually involves a team that may include a pediatrician, hormone specialist, dietitian, and physical or speech therapists, with treatment aimed at growth, puberty timing, feeding or weight concerns, low muscle tone, and learning or behavior needs. Treatment often looks different for each person, and some children may need growth hormone or medicines to manage early puberty, while others benefit most from nutrition support, exercise plans, and developmental therapies. For many living with Temple syndrome due to maternal uniparental disomy of chromosome 14, treatment also means regular follow-up to track growth, weight, and pubertal changes so care can be adjusted over time. If you are wondering about the best treatment for Temple syndrome due to maternal uniparental disomy of chromosome 14, a genetics team can help build a plan that fits day-to-day life.
Can you cure Temple syndrome due to maternal uniparental disomy of chromosome 14?
No, there is currently no cure for Temple syndrome due to maternal uniparental disomy of chromosome 14, because it is a genetic condition present from birth. Treatment cannot remove the underlying cause, but it can help manage day-to-day problems such as poor growth, feeding issues, early puberty, learning or behavior challenges, and weight gain, often with support from several specialists.
Non-drug treatment
Daily care for Temple syndrome due to maternal uniparental disomy of chromosome 14 often centers on helping with feeding, movement, learning, and growth rather than relying only on medicines. In real life, this can mean a baby who tires during feeds, a child who needs help with balance and handwriting, or a teen who benefits from school support and regular exercise. Supportive therapies can make everyday tasks easier and help many living with Temple syndrome build skills over time. Because needs vary by age and from one person to another, care is usually tailored and reviewed regularly.
Feeding therapy and guidance from a dietitian can help with poor sucking, slow weight gain, or picky eating. This is often one of the earliest non-drug treatments for Temple syndrome, especially when early symptoms of Temple syndrome include low muscle tone and trouble feeding.
Physical therapy can improve strength, posture, balance, and motor milestones in children with Temple syndrome. For many, treatment begins not at the pharmacy, but with guided practice for sitting, walking, climbing stairs, and staying active.
Occupational therapy helps with daily skills such as dressing, handwriting, utensil use, and sensory challenges. Some may find it also helps with coordination and fatigue during school or play.
Speech and language therapy can support delayed speech, unclear pronunciation, and communication skills. If feeding and mouth muscle control are affected, the same team may also help with chewing and swallowing strategies.
Your genes may have an impact on how drugs work for you
For people living with Temple syndrome due to maternal uniparental disomy of chromosome 14, there is no well-established evidence that this genetic change causes a unique, predictable reaction to the medicines commonly used in care. In day-to-day treatment, doctors usually pay more attention to things like body size, muscle tone, feeding or blood sugar problems, and early puberty, because these can change how strongly a medicine affects someone and what dose feels safest. So while genes are the cause of the condition, medicine response is usually guided more by the person’s symptoms and close follow-up than by special genetic drug testing.
Pharmacological treatments
Treatment is usually aimed at the day-to-day problems Temple syndrome due to maternal uniparental disomy of chromosome 14 can cause, rather than at the genetic change itself. Not everyone responds to the same medication in the same way. The medicines used depend on symptoms such as early puberty, poor growth, constipation, reflux, or later problems with weight and blood sugar. In practice, medications for Temple syndrome due to maternal uniparental disomy of chromosome 14 are chosen one issue at a time and reviewed regularly.
If puberty starts too early, doctors may use gonadotropin-releasing hormone agonists such as leuprolide or triptorelin, and sometimes a histrelin implant. These medicines pause early hormone signals and can help protect adult height and ease the social stress of early body changes.
Some children with Temple syndrome due to maternal uniparental disomy of chromosome 14 may be offered somatropin if growth is poor or growth hormone deficiency is found. Dosing may be increased or lowered gradually to balance growth benefit with side effects and regular monitoring.
Constipation is common, so osmotic laxatives such as polyethylene glycol are often used, and lactulose may be another option. For many, this can mean less belly pain, easier stooling, and fewer painful bathroom struggles.
Babies and children with troublesome reflux may be treated with acid-lowering medicines such as omeprazole, lansoprazole, or famotidine. These drugs are usually used when feeding discomfort, spit-up, or poor weight gain suggests reflux is more than a minor nuisance.
Genetic influences
Many living with Temple syndrome have growth, feeding, and puberty differences that can show up as early symptoms of Temple syndrome in infancy or childhood, and in this subtype those features come from a very specific chromosome pattern. In Temple syndrome due to maternal uniparental disomy of chromosome 14, both copies of chromosome 14 come from the mother instead of one copy coming from each parent. That matters because some genes on chromosome 14 work differently depending on whether they were inherited from the mother or the father, so the usual balance of gene activity is lost.
This form of Temple syndrome is usually caused by a random event around conception, not by a gene change being passed down in the usual inherited way. To put these pieces together, doctors may suggest genetic counseling, which can help explain the test result and what it may mean for future pregnancies.
Is Temple syndrome due to maternal uniparental disomy of chromosome 14 genetic?
Genetics are central to Temple syndrome due to maternal uniparental disomy of chromosome 14, because it is caused by a specific chromosome imprinting change. Most cases are not inherited in the usual way, so recurrence risk is often low but needs genetic counseling.
Having a genetic risk is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are commonly found in the general population. Most do not have a direct effect on health and are simply part of natural human diversity. For many genes, carrying 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 cases, though, a single well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Pharmacogenetics—how genetics influence drug effects
For many living with Temple syndrome due to maternal uniparental disomy of chromosome 14, treatment is shaped by the day-to-day issues causing the most trouble, such as poor growth, feeding problems, low muscle tone, early puberty, or later weight gain. The genetic finding matters because it confirms that these problems come from a specific imprinting disorder, which helps doctors choose the right monitoring and avoid confusing it with a different condition that can look similar. There is no medication that can correct the underlying chromosome pattern itself, but the diagnosis can help guide care, including whether some children may benefit from growth-related hormone treatment or medicines that can slow unusually early puberty. Many genetic differences can be managed, but response to treatment still depends on age, symptoms, hormone levels, nutrition, and overall health. Because Temple syndrome can affect several body systems, treatment for Temple syndrome due to maternal uniparental disomy of chromosome 14 is usually most helpful when planned by a team that may include hormone, nutrition, and developmental specialists. In practice, the genetics behind Temple syndrome often guide what needs to be watched closely and when supportive medicines may help, rather than pointing to one single drug plan for everyone.
Interactions with other conditions
Temple syndrome due to maternal uniparental disomy of chromosome 14 often affects more than growth and puberty, and over time it can connect with other health problems that need watching. In childhood or the teen years, some may move from early feeding difficulties to later weight gain, and that extra weight can raise the chance of insulin resistance, type 2 diabetes, fatty liver disease, and sleep apnea. Day-to-day, it can feel like one health issue amplifies the other. For example, low muscle tone and short stature may make exercise harder, which can in turn add to weight-related problems. Early puberty can also affect bone health and final adult height, so doctors often keep an eye on hormones, growth, and metabolism together rather than as separate issues. Because the pattern can vary, many people living with Temple syndrome benefit from coordinated follow-up with endocrine, nutrition, and sleep specialists, especially if early symptoms of Temple syndrome are later joined by weight gain or tiredness.
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 Temple syndrome due to maternal uniparental disomy of chromosome 14?
Temple syndrome can look a lot like Prader-Willi syndrome or Silver-Russell syndrome because these conditions can also cause low muscle tone in babies, feeding trouble, slow growth, and short height. It may also be confused with other causes of unusually early puberty or ongoing growth problems, including growth hormone problems and some other rare genetic conditions. Doctors usually tell these apart by looking at the full pattern of symptoms and confirming the cause with genetic testing.
History
Families and communities once noticed patterns of poor growth, early puberty, and a stockier build in some children, but for many years these features were not recognized as part of the same condition. In day-to-day life, this could look like a child who stays shorter than classmates, gains weight easily, or enters puberty earlier than expected, while otherwise having a mix of findings that seem hard to connect.
Temple syndrome was described more clearly in the late 20th century, as doctors began comparing children and adults who shared this pattern of growth, hormone, and developmental features. Early reports focused on what could be seen in the clinic, such as low birth weight, feeding difficulties in infancy, shorter height later on, and differences in muscle tone and learning that could vary from one person to the next.
As medical science evolved, researchers realized that Temple syndrome was not just a collection of symptoms but a distinct disorder linked to the way certain chromosome 14 regions are inherited and regulated. That mattered because it helped explain why the condition could affect several body systems at once, including growth, metabolism, puberty, and development. Not every early description was complete, yet together they built the foundation of today’s knowledge.
Over time, better chromosome testing and genetic studies made it possible to separate Temple syndrome from other conditions with overlapping features. This was an important step, since many living with Temple syndrome may first be evaluated for short stature, early signs of puberty, or delayed development rather than for the syndrome itself. In some cases, the early symptoms of Temple syndrome are subtle enough that the diagnosis is not made until later childhood or even adulthood.
Today, Temple syndrome due to maternal uniparental disomy of chromosome 14 is understood as one of the recognized causes of the syndrome, alongside other changes that affect the same chromosome region. This clearer picture has improved diagnosis and follow-up, even though the condition is still considered uncommon and can be missed if the signs are mild. Knowing this history helps explain why people with Temple syndrome may have gone undiagnosed in the past and why a careful, genetics-informed evaluation is now such an important part of care.