Getting a 3q29 diagnosis for yourself, a child, or someone you know can lead to a flurry of Internet search activity. You want to understand what it is, and more importantly, what it means.

But it’s not easy to find all the information you’re looking for in one place.

We looked at the most common questions people are asking online about this rare genetic condition and attempted to at least partially answer them in one spot. The truth? There are still so many unknowns about 3q29 deletion syndrome (we’ll call it 3q29Del for short).

Here’s what we know…

What Is the Life Expectancy of Someone With 3q29 Deletion Syndrome?

Researchers aren’t sure yet but in theory, people with 3q29 deletion syndrome can be expected to live typical lifespans. There’s nothing specific about this condition that causes a shortened life span.

However—3q29Del often occurs with a range of medical and neuropsychological issues that can indirectly impact quality of life and possibly even life expectancy. This doesn’t mean there’s an immediate need for panic, though. Researchers are getting a better idea of what these health challenges could be and how to manage them.

It’s hard to know which co-occurring medical conditions someone will develop or be born with, and some are more serious than others. For example, about 47% of people known to have 3q29Del have some form of structural cardiovascular disease which can be serious if it’s not managed.

Neurodevelopmental concerns like autism, anxiety, learning disabilities, and psychosis, which are higher in the 3q29Del population, can also affect someone’s overall health and ability to take care of themselves. Luckily, these conditions can be managed to a degree and don’t necessarily lead to a shortened life span on their own.

Knowing what health problems to look out for so you can treat or manage them may be a proactive way of keeping yourself or a loved one well. You can find a list of possible health conditions and recommendations here.

What Are Symptoms and Characteristics?

The symptoms and characteristics vary from one person to the next and show up during different life stages. Some people are more affected than others and it’s unclear why. Here are some examples of what researchers observed:

In utero

Unborn babies with 3q29Del may measure smaller than and exhibit unusual growth patterns. This could lead to a high-risk pregnancy where doctors pay special attention to amniotic fluid, monitor heart rate, and check for the presence of intrauterine growth restriction (IUGR). There might be extra medical staff on hand to address immediate health concerns at birth.

Birth to age 3

This could be a challenging time for parents and caregivers of children with 3q29Del. While caring for a child with 3q29Del at this age can feel confusing and overwhelming, it’s also the best time to provide the early intervention they’ll need to overcome the issues that surface.

Research shows:

• Global developmental delays are common. This sounds scary, but it just means there are delays in one or more domains. For example, a child with 3q29Del may have delays in motor development and social-emotional milestones. The would be called global developmental delay even if the impact across domains is mild. While these milestones come later than expected, they’re generally achieved eventually.

• There may be concerns about social, emotional, and/or cognitive skills.

• A vast majority of kids experience feeding problems by the time they’re a year old.

Childhood and adolescence

The major characteristics of 3q29Del in kids as they get older vary tremendously by this point. Sometimes this has to do with how much help a child received when they were younger, the type of environment in which they live, or some other factor.

If tested, most children with 3q29Del will show some relative weakness in cognitive skills, even if this is masked by strengths in other areas. Some kids might require special education while others do well in general education settings, with or without some extra help.

This is also a time when neurodevelopmental issues may need to be addressed. Autism spectrum disorders, anxiety, ADHD, depression, bipolar disorder, and psychosis are common among 3q29Del, just as they are with other genomic disorders.

Even though dealing with a genetic condition can be hard for kids and their caregivers, many children with 3q29Del are happy, have friends, enjoy hobbies, and engage in similar activities as their genetically-typical peers.

Adulthood

Research on 3q29Del began in 2005. Because of this, scientists have only really been able to study children with the syndrome and then follow them into adulthood. This is because children are more likely than adults to be tested for genomic disorders.

What does this mean? Presumably, 1 in 30,000 to 40,000 adults currently live with 3q29Del. We just don’t know much about them yet. Here again, the range in experience varies. Some people with 3q29Del require a lot of care as adults, while others may be able to live a relatively independent life with less support.

What Do People With 3q29 Deletion Look Like?

For the most part, they look like anyone else. Certain commonalities of physical features have been observed but aren’t universal. These features, if present, are usually not very obvious. They include:

• Slightly downturned eyes

• Short philtrum (the space between the nose and upper lip)

• High nasal bridge

• Ears that rotate forward

• Smaller than average head size

• Prominent forehead

• Lean body type

• Small stature

• Long, thin fingers

• Dental abnormalities like widely spaced teeth

In addition, people with 3q29Del may temporarily or permanently require medical devices that are visible. For example, a young child may need to wear leg braces to assist with learning to walk or use a feeding tube to help with caloric intake.

Does It Cause Learning Disabilities?

Researchers now suspect most people with 3q29Del have some degree of learning disability. But like many things pertaining to 3q29, experiences vary.

For example, a person might have an above-average verbal ability but lack and age-appropriate understanding of how to care for themself. In contrast, sometimes speech and development can be so significantly delayed that almost all areas of learning become affected.

To further complicate matters, the potential presence of neuropsychiatric conditions that frequently occur with 3q29Del (ASD, ADHD, anxiety, etc.) might make it more difficult to assess one’s true ability to learn.

It’s unclear to what extent 3q29Del affects learning ability from one person to the next, or why people are affected differently. However, it is clear that getting as much support as early as possible can make a big impact on learning and development.

Is There a Treatment?

You can’t “cure” 3q29 deletion syndrome but you can monitor and treat the physical and mental health problems that arise. The list of potential issues is long, and some may not pertain to everyone. This list tells you what could develop and how you can best manage a particular concern.

Pro tip: Managing the many manifestations of 3q29Del can feel overwhelming and exhausting. It usually involves appointments, medical exams, and assessments by professionals from different disciplines. Organizing paperwork, test results, and notes in a binder or computer folder can help keep you sane and keep your medical team on the same page.

How Are Adults With 3q29 Deletion Syndrome?

We can assume at least 1 in every 30,000 to 40,000 adults are affected by 3q29 deletion syndrome. But since genetic testing is a newer technology, and this syndrome was only first identified in 2005, most adults with 3q29Del don’t know they have it.

Because of this, not much is known about how 3q29Del affects people as they get older. An adult who never received a diagnosis may not have had access to the early intervention and medical care we now know is so important. As a result, they may experience more challenges than someone who was diagnosed at an early age.

Research is emerging in this area. Now that 3q29Del has been identified and described, we’re better equipped to support those who are diagnosed into adulthood.

What about family planning? If you have 3q29 deletion syndrome, there’s a 50% chance you’ll pass it to your child. However, technology now allows those with genomic disorders to have unaffected biological children.

Does It Cause Schizophrenia?

No one knows exactly what causes schizophrenia but it’s likely a combination of genetics, environment, and brain chemistry. Researchers linked 3q29Del with an increased risk of developing a schizophrenic-type disorder.

Having 3q29Del doesn’t necessarily mean someone will develop schizophrenia. But it does mean they’re at greater risk. Family, friends, and/or caregivers need to be on the lookout for signs and symptoms. Additionally, people with 3q29Del should be aware of the recreational drugs and even medications that could increase the risk of developing schizophrenia, and limit exposure to these if they can.

Recognizing the signs of schizophrenia and intervening as early as possible improves the outcomes. You can learn more about schizophrenia here.

What Causes 3q29 Deletion Syndrome?

Researchers believe most cases of 3q29 deletion syndrome are not inherited. These cases are called “de novo”. During the conception or shortly after, an affected embryo’s cells begin replicating with a tiny part of the third chromosome missing on one of the two pairs of chromosomes found in each cell. Sometimes the affected cells are found throughout the body and sometimes they’re confined to a particular body system.

In de novo cases, parents can feel like they did something to cause their child to have the condition. At this time, scientists don’t believe there’s a behavior or lifestyle factor that causes it. It’s just that the section of genetic material affected in 3q29Del happens to be a vulnerable spot on the third chromosome.

The National Institutes of Health describes it like this:

“The segment that gets deleted is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. The rearrangement can lead to missing or extra copies of DNA at 3q29.”

Though most cases are thought to be de novo, inherited cases have been reported. A child of a parent with 3q29Del has a 50% chance of inheriting the condition, and the parent usually finds out they have it themselves after their child was diagnosed.

Get Involved

A few years ago, you couldn’t find information like this anywhere. Parents whose children received a diagnosis had no idea what to expect or how to help their child. Even finding someone else with the same diagnosis would have been near impossible a decade ago.

Having 3q29 deletion syndrome or caring for someone with it is never easy. But because of research, we’ve seen what’s been helping people with 3q29. There’s still a long way to go but by studying and understanding the condition, we can circumvent some of the challenges and empower the 3q29 community.