Bohring-Opitz syndrome (BOS): What to do next when your child has been diagnosed

What is Bohring-Opitz syndrome?

BOS is a rare genetic condition caused by spelling changes in the ASXL1 gene. Genes are the instructions our bodies use to grow and work properly.

The ASXL1 gene is responsible for creating proteins that help regulate our genetic information. Spelling changes in the ASXL1 gene disrupt this regulation, leading to differences in the body, most often affecting development. These differences can include cognitive and physical abilities, differences in facial features, and seizures (epilepsy).

*You may also see this condition referred to as Oberklaid-Danks Syndrome, this was the historical name for the condition. Most people and resources now refer to this condition as Bohring-Opitz syndrome/BOS. Both names refer to the doctors that described the genetic cause for and physical features associated with this condition.

Top resources for finding accurate medical information on BOS

Resources written for the general public

• Genetics and Rare Diseases Information Center: BOS
• National Organization for Rare Diseases: BOS
• MedlinePlus: BOS
• Unique: BOS

Science-heavy resources targeted at clinicians:

• National Library of Medicine: BOS
• OMIM: BOS

Should I get a second opinion for a Bohring-Opitz syndrome diagnosis?

Rare diseases require specialized expertise. Consider seeking a second opinion from a physician who focuses specifically on your child's condition. A fresh perspective can confirm the diagnosis, reveal additional treatment options, or simply provide reassurance about your care plan.

For many rare diseases, it can be hard to find a specialist with relevant experience. You can try asking providers you have seen, referring to community resources (see Section 5 below), or consulting a genetic counselor.

What does a genetic counselor do when my family has received a Bohring-Opitz syndrome diagnosis?

Certified Genetic Counselors have completed a program of study focused on understanding and providing information about genetic disorders. A genetic counselor can help you understand the genetic aspects of your child's diagnosis, what it means for your family, and whether testing is recommended for siblings or other relatives.

Genetic counseling can take place in person or in a telemedicine visit. The National Society of Genetic Counselors offers a tool for finding a genetic counselor.

Should other family members undergo genetic testing for Bohring-Opitz syndrome?

In most cases, BOS happens for the first time in a child, called de novo. A de novo condition means the spelling change in the ASXL1 gene was not passed down from either parent. When this happens, the chance for another child in the family to have the same genetic change is usually low (under 1%).

In rare cases, a genetic change can be passed down from a parent to a child that causes BOS. This type of inheritance is called autosomal dominant, which means one genetic change is enough to cause the condition. A genetic counselor can help explain what this means for your family and whether testing is recommended for siblings, parents, or other family members.

What should I ask my child's specialists about a Bohring-Opitz syndrome diagnosis?

Knowing what to ask can help you make the most of appointments with specialists. You can use these questions as a guide to discuss care that is specific to your child's diagnosis.

For questions specific to your child's situation, Citizen Health offers a free doctor's appointment preparation tool that incorporates your child's medical records and provides appointment preparation suggestions through an AI chat interface.

What symptoms should we monitor for in Bohring-Opitz syndrome?

Every child with BOS will have their own experience. There are a few features that have been seen in many individuals with BOS, though not every child will experience all of these, and how much each feature affects your child can vary. You know your child best, partner with your child's care team to identify any differences in development or health.

Generally, the following features are reported to be associated with Bohring-Opitz syndrome:

Core features:

• Developmental delays (when a child reaches milestones like walking or talking later than expected)
• Cognitive differences (including intellectual disability and learning differences)
• Distinct facial features (details that a medical geneticist is trained to look for, these may include a red birthmark on the face/forehead, eyes that are farther apart and stick out further than average, and fuller cheeks)
• A social, happy personality
• Seizures (epilepsy is the name for chronic or repetitive seizures)
• Growth delays (individuals with BOS are often smaller than others their same age)
• Posture abnormalities (including bent elbows and wrists that angle outwards, shoulders and fingers may be positioned differently at rest, too)
  • Posture often can be changed with therapies and adjusts with age
• Difficulties feeding (often gets better with age)
• Speech/communication delays

Other features to be aware of:

• A smaller head (called microcephaly)
• More hair on the body than average (may be noticed on the eyebrows or elsewhere)
• Differences in the mouth/palate (including cleft palate, when the bones in the mouth do not connect fully before birth)
• Getting sick more than typical/average
• Sleep difficulties
• Trouble walking without assistance
• Gastrointestinal problems (including constipation and vomiting)
• Heart, eye, and kidney abnormalities
• You may see mentions of an increased risk for kidney cancer called Wilms tumors - your child's doctor may want to include extra imaging of the kidneys to be cautious
  • Research shows that children with BOS may have a higher chance of developing Wilms tumors (a type of kidney tumor) and hepatoblastoma (a type of liver tumor) than children without BOS, even though the overall risk is still low. Because of this, many care teams recommend regular kidney ultrasounds, often every few months, through early-to-mid childhood, sometimes alongside blood tests to check for hepatoblastoma. Ask your child's doctor whether this kind of monitoring makes sense for your child, and how often.
  • This kind of ongoing monitoring is meant to be a proactive precaution, not a sign that cancer is expected. It's a way for doctors to catch something early if it were ever to occur. The vast majority of children with BOS do NOT develop cancer. *The data is not certain that BOS is associated with an increased risk for these tumors, but imaging may be recommended as an extra precaution
  • Because of the possibly increased risk for kidney tumors, some data suggests a slight increase in cancer risk - please remember that the vast majority of children with BOS do NOT develop cancer

What is the expected progression of Bohring-Opitz syndrome?

BOS is a lifelong condition, and every child's experience is different. The majority of information is from data collected on children with BOS, so adolescence and adulthood experiences are likely to be much more variable. Here is a general picture of what to possibly expect:

In the first years of life (infancy and early childhood)

BOS is often recognized at or soon after birth. Early features include feeding challenges (including frequent vomiting and difficulty tolerating food). Treatments like feeding tubes help with nutrition and benefit overall health significantly. Some babies have episodes of apnea (pauses in breathing) and slow heart rate/heart differences, which specialists can help treat. Recurrent infections (especially in the lungs, urinary tract, and ears) are also common and have treatments available to help. Seizures can begin in infancy and most respond well to standard seizure medications. Babies tend to have low muscle tone in the middle of their bodies.

A characteristic, "BOS posture" (elbows bent, wrists angled outward, shoulders turned in) is often visible and may be one of the first things families and doctors notice. A red birthmark on the forehead/face is one of the most recognizable features of BOS, and it typically fades with age. Other facial features (prominent and widely spaced eyes, joined eyebrows, a small jaw, high or cleft palate, and low-set ears) vary from child to child. Different facial features are only part of what helps your child's care team recognize and name this condition. Spotting these features is something a medical geneticist is trained to do, and identifying them is only a tool for diagnosis. Your child is so much more than a list of clinical terms.

Kidney ultrasounds are often recommended early on to keep an eye out for Wilms tumors (again - the data is not certain that BOS is associated with an increased risk for Wilms tumors, but imaging is available as an extra precaution). Early intervention services like occupational, physical, speech, and feeding therapies are effective and can make a real difference moving forward.

Through childhood

Feeding usually improves over time and can benefit from therapy. Continuing to manage vomiting makes a big difference in overall health. Constipation is common and can be managed by your child's doctor. Recurrent infections also tend to decrease as children get older. Many children with BOS have developmental delays and intellectual disability. Everyone's progress varies, many children have delays in learning to sit or stand, and some learn to walk with a walker or braces. Many children have a happy, engaged personality. Communication differences are common, but many children understand more than they can express. Augmentative and alternative communication (AAC) devices can be a meaningful way to support connection and expression.

Posture differences tend to become less significant over time, and keeping up with any recommended therapies can make a real difference. Seizures, sleep difficulties (including pauses in breathing), and vision changes are worth keeping an eye on and talking about with your child's doctor. Kidney imaging also tends to continue throughout childhood, and the risk for Wilms tumors ends after roughly 7–8 years of age.

In adolescence

There isn't a lot of data on individuals with BOS beyond childhood, so the picture of what to expect is still developing. Generally, adolescents are often more medically stable. Feeding tends to be much improved and infections are less frequent. Most adolescents with BOS continue to benefit from support with daily activities (eating, bathing, getting dressed, and communicating). Some use walkers or other assistive devices, others rely on wheelchairs or adaptive strollers. Spine differences (including curving of the spine, called scoliosis) can arise during this time and can be monitored by your child's doctor. Vision changes, urinary tract infections, and sleep difficulties/pauses in breathing during sleep are worth keeping an eye out for. Specialty care can help manage differences in all of these areas.

In adulthood

Information on what to expect in adulthood is still limited, as not many individuals with BOS have yet reached adulthood. As families connect through registries and advocacy communities, a clearer and more complete picture will continue to emerge. What families do know is that many of the hardest parts of early life tend to be in the past by adulthood. Feeding is usually far more manageable and infections are less frequent. Adults with BOS continue to benefit from full support with daily life and ongoing medical attention for things like urinary health, vision, and nutrition. Many adults with BOS are also described as joyful, social, and deeply connected to the people around them. Families consistently speak about the ways their loved ones with BOS bring something irreplaceable to their lives.

What treatments are available for Bohring-Opitz syndrome?

• There is currently no cure for BOS. Treatment focuses on managing symptoms and supporting development, and care is highly specific to each individual. Treatment tends to include feeding therapies and may include seizure medication(s), which will be determined by your child's doctor. See Section 3 for more on developmental therapies.
• There is an active research space surrounding BOS, both tracking individuals' health over time and looking into potential treatments. Visit the ARRE Foundation's website for updated research information.

What healthcare providers should be on my child's care team?

Your child's BOS care team is the group of providers who work together to support your child's health, development, and quality of life.

BOS affects multiple body systems, so your child's care team will likely extend well beyond a single doctor, and building it early matters, as waitlists for specialty and therapeutic services can be long. All of the following providers may not be helpful depending on your child's specific needs, but here's a quick guide of providers you might meet and what they can help with.

Specialist Physicians

A medical geneticist is often a helpful hub for families navigating a rare disease diagnosis, especially when you're dealing with multiple specialists at once. A developmental pediatrician can help pull together the big picture, coordinating evaluations and keeping an eye on how your child is growing and developing across different areas. Orthopedic specialists can help with any skeletal (bone/spine) differences. A gastroenterologist can help with nutritional difficulties or feeding problems. A neurologist can help manage seizures and track your child's neurological development over time. Pulmonologists or sleep medicine specialists can help assess breathing, especially during sleep. An ophthalmologist or optometrist can help with vision differences or changes. A nephrologist or oncologist can help if any kidney differences/Wilms tumors are affecting your child. A urologist can be beneficial if your child experiences difficulties with their genitourinary system, including recurrent urinary tract infections. ENT (ear nose and throat) specialists can help with hearing issues or frequent ear, nose, or throat infections. A cardiologist can help if your child is experiencing any differences in how their heart works.

Therapeutic Providers

A physical therapist can support your child's movement, muscle tone, balance, and motor skills. An occupational therapist focuses on everyday skills, fine motor development, and adaptive equipment. A speech-language pathologist can work on communication, including alternative and augmentative communication (AAC) methods, as well as feeding. A feeding therapist can provide specialized support if eating and swallowing are challenging.

This is not a complete list, but it can serve as a starting point. Each child will have their own individual journey, and you can ask your child's doctor which providers make sense for your child's specific needs. For a deeper look at therapeutic services and how to access them, see Section 3.

Finding clinical trial opportunities & supporting research into Bohring-Opitz syndrome

When you participate in research, you help your child and other families in the future. Medical research studies can be very different from each other. Some test new treatments, while others are "natural history studies" that just collect information about a disease's impact over time.

Natural history studies are designed to help researchers learn more about the condition. This information is important for creating future treatments. Traditional natural history studies can involve additional medical appointments over the course of several years.

Clinical trials are research studies that help doctors find new treatments. Some trials test new medicines or therapies that aren't available yet. Even if you may choose not to participate, it can be good to know what options exist for your child's condition. Your child's doctor or disease organization can help you find trials that might be a good fit. The U.S. government also maintains a registry at clinicaltrials.gov.

Patient registries collect health information from people with specific diseases to help research move faster and connect families with clinical trials. Registries also show researchers and drug companies that families are engaged and want to help develop new treatments, which can bring more funding and research attention to a disease. Some diseases have more than one registry you can join. Patient Advocacy Groups typically establish and maintain patient registries for specific rare diseases. (See Section 5 below to learn more).

Organizing and maintaining your child's medical records for Bohring-Opitz syndrome

Rare disease patients see many different doctors, often across different medical and technological systems that may not talk to each other. Unfortunately, that means the burden often falls on caregivers to track care holistically, identify "gaps," and make sure nothing gets missed. Keeping your records as organized and centralized as you can from early on is likely to improve your ability to manage your child's care down the road.

You can start by creating a one-page sheet with your child's diagnosis, current medications, allergies, and emergency contacts. Bring this sheet to every appointment. It can really help in emergencies or when you see a new doctor.

Many caregivers establish one (or several) records binder(s) in which they keep track of appointments, medication updates, symptoms, and other ongoing medically relevant information.

We also encourage caregivers to consider Citizen Health's free tools for centralizing, managing, accessing, and extracting key information from health records. Our system will collect all your health records, across doctors and health systems, making them available on our secure online platform that can provide answers in real time based on questions you ask (like "What medications has my child been prescribed in the past year?" or "When did we last see an orthopedist?")

As a company built by rare disease caregivers, we aim to overcome the need for physical records binders. But ultimately the important question is what works for you and your family.

Before age 3: Understanding early intervention services for children with Bohring-Opitz syndrome

Early intervention provides therapies and support for children from birth to age 3 who have delays or disabilities. Services may include physical therapy, occupational therapy, speech therapy, and other developmental support.

Every state has an early intervention program, and you can ask for an evaluation even if your child doesn't have a formal diagnosis yet. In some states, early intervention programs are called "birth to three", "early steps", or "first steps".

It's never too early to search for early intervention services in your state. Learn more from ECTA, the Early Childhood Technical Assistance Center.

3 & up: School services for children with Bohring-Opitz syndrome

IEPs and 504 plans

When your child turns 3, they move from early intervention to school-based services. An Individualized Education Program (IEP) is a legal document that describes the special instruction, therapies, and support your child needs to learn at school.

A 504 plan provides accommodations for students who don't need special instruction but need support because of a disability. Understanding your rights and these plans helps make sure your child gets the right services throughout their school years.

Communicating with your school

Building a good relationship with your child's school team is important. You know your child better than anyone, and that knowledge is incredibly valuable. Come to meetings prepared with information about your child's needs, share your concerns and hopes openly, and never hesitate to ask questions if something isn't clear.

Communication is one of the most important areas to address with your child's school team. Some children with Bohring-Opitz syndrome are nonverbal or have limited speech and rely on AAC systems to express themselves and engage with learning. It's essential that your child's school team is trained on and actively uses the communication system your child depends on. An AAC device is only effective if everyone around your child is using it consistently, including teachers, aides, and therapists.

If your child has seizures, their school will likely create something called a Seizure Action Plan, a written document from your child's neurologist that tells school staff exactly what to do if a seizure occurs. Most schools are required to have one on file, and many states have specific laws about seizure management in schools.

You are an equal and essential member of your child's school team. Other BOS families can also be a valuable resource for navigating school as many have experience advocating for communication support and seizure plans and are willing to share what worked for them.

Assistive devices and equipment for Bohring-Opitz syndrome

Depending on your child's needs, assistive technology and adaptive equipment can help with independence, communication, and quality of life. This might include communication devices (augmentative and alternative communication or AAC), mobility equipment, adaptive seating and positioning, or adaptive toys and tools. Your child's therapists can recommend the right devices, and many are covered by insurance or available through school programs.

Some devices and equipment can be expensive but can very often be covered by insurance. If coverage is denied, be sure to talk to your doctors about writing an appeal letter or a Letter of Medical Necessity. These documents can be critical for getting insurance coverage for devices and equipment.

Respite care

Caring for a child with complex medical needs is hard work, and taking breaks is important for your health and your family's wellbeing. Respite care provides temporary relief, giving you time to rest, handle other responsibilities, or just recharge. Options range from a few hours with a trained caregiver to overnight or weekend programs.

Respite isn't a luxury. It's a necessary part of taking care of your family long-term. The non-profit Access to Respite Care and Help (ARCH) provides guidance on how to find a respite care provider.

Building your support systems as a Bohring-Opitz syndrome caregiver

Being a caregiver to a child with BOS is a heavy responsibility. You can't do it alone, and you don't have to. Building a network of support including family, friends, medical providers, therapists, other parents, and community resources, creates a safety net for hard days as well as people to celebrate victories with.

When asking for help, it helps to be specific: people want to support you but often don't know how. Whether it's meals, watching your other children, or just someone to listen, letting others help is good for everyone.

Don't forget about support for other family members! If your child has siblings check out the Sibling Support Project.

Medicaid and Social Security eligibility for Bohring-Opitz syndrome

Even if your family income exceeds typical Medicaid limits, children with BOS may qualify for Medicaid through special pathways designed for those with disabilities or significant medical needs.

A program called Katie Beckett or TEFRA waivers allows children with disabilities to qualify for Medicaid based on their own income rather than family income. Additionally, children with significant functional limitations may qualify for Supplemental Security Income (SSI), which provides monthly payments and often automatically qualifies them for Medicaid. These programs can provide crucial coverage for therapies, equipment, and services private insurance won't cover.

Learn more about Medicaid in your state through this interactive map from NORD.

ABLE savings accounts for Bohring-Opitz syndrome

On that note, if your child qualifies for SSI, they may also be eligible for an ABLE (Achieving a Better Life Experience) account. ABLE accounts are tax-advantaged savings accounts specifically designed for people with disabilities that are opened in a child's name but do not count against the $2,000 asset limit that typically applies to programs like SSI and Medicaid. Find out more at ablenrc.org.

Understanding your insurance coverage for Bohring-Opitz syndrome

What's covered

• Your insurance policy determines what services, therapies, equipment, and medications are covered for your child. Start by reading your plan documents to understand your benefits, deductibles, co-pays, and out-of-pocket maximums. Call your insurance company's customer service or case management department as many insurers assign case managers to children with complex medical needs who can help you understand your coverage.
• Don't assume something isn't covered until you've asked. Many families are surprised to learn what benefits are available when properly documented.
• Keep notes of every call you make, including the date, time, person you spoke with, and what they said. This documentation can be very helpful later.
• Most children's hospitals also have a financial counselor or patient navigator who may be able to help with insurance or financial coverage issues

Therapy & rehabilitation

• When considering insurance coverage for therapies and rehabilitation services, make sure to see if your plan has a cap for the number of therapy visits per year. Many children with complex needs will exceed that cap and appeals or additional insurance coverage plans may be needed.

Medical equipment

• If your child needs durable medical equipment such as a wheelchair, walker, orthotics, or at home equipment, getting insurance coverage for that equipment will likely require prior authorization or a letter of medical necessity.

Denials & appeals

• Insurance companies often deny coverage for therapies, equipment, or medications at first but denials can often be overturned with the right documentation. If coverage is denied, you have the right to appeal, and many families win their appeals.
• An effective appeal letter includes: your child's diagnosis and how it affects their daily life, specific medical reasons from doctors explaining why the service or item is necessary, references to your insurance policy language that supports coverage, research or medical guidelines supporting the treatment, and a clear request for reconsideration. Many patient organizations and hospital financial counselors can help you write strong appeals. You can even appeal multiple times, and many families win on their second or third attempt. You're advocating for your child, and persistence often pays off.

Non-discrimination protections for Bohring-Opitz syndrome

The Genetic Information Nondiscrimination Act (GINA) is a federal law that protects you from genetic discrimination in health insurance and employment. Health insurance companies cannot use genetic information to deny coverage, raise your premiums, or determine eligibility. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. Employers cannot use genetic information when making hiring, firing, or promotion decisions. Understanding these protections can give you confidence in pursuing genetic testing and sharing results with your child's healthcare providers without fear.

Learn more about these protections from the American Society of Human Genetics.

Why connect with other Bohring-Opitz syndrome families?

Finding and connecting with families who have walked in your rare disease shoes can be life-changing. Other parents navigating the same diagnosis can offer practical advice, emotional support and hope based on their shared experience. They can understand the daily challenges and the victories, big and small, in ways that others can't. Disease-specific communities often become a lifeline and a source of hope that remind you that you are not alone.

Local Bohring-Opitz syndrome support groups

Your genetic counselor or other healthcare provider may be able to connect you with local families in your area. It is totally appropriate to ask your providers if they know of any local families who might be willing to connect with you for a phone call or even a play date.

Some rare diseases are so exceptionally rare that it might not be possible to connect locally with another person with the same rare disease. But collectively, rare diseases are not that rare! Connecting with broader rare disease groups is another great option. Many states and communities have organizations that support all rare diseases.

Patient advocacy groups (PAGs) for Bohring-Opitz syndrome

Patient advocacy groups exist for many rare diseases and serve as a central hub for connections, reliable information, research updates and advocacy efforts. These organizations work to advance research, improve care standards, raise awareness, and support families. They often host conferences, maintain family directories or registries, fund research, provide educational resources, and fight for policies that benefit the community.

Connecting with your disease's advocacy organization gives you access to experts, researchers, and a network of families while contributing to the larger mission of finding treatments and cures.

One great resource, the ASXL Rare Research Endowment (ARRE) Foundation aims to expand awareness of and research on BOS/ASXL-related disorders. Their mission is to support families, drive research, and create a future with real treatment options for ASXL-related disorders. This resource is also a great way to build a community with other families affected by BOS. Citizen Health has partnered with the ARRE Foundation to help families centralize medical records and contribute to research. Learn more about Citizen Health's partnership with the ARRE Foundation here.

The ARRE Foundation has also partnered with the Bohring-Opitz Syndrome Foundation. Both groups champion advocacy surrounding BOS, expanding awareness, community, and research for a cure. Learn more about the Bohring-Opitz Syndrome Foundation here.

Disease-specific conferences and events

Many patient advocacy groups will help spread awareness through conferences and events. These can include in person events or online events and are great opportunities to connect with others and to stay on the cutting edge of new research opportunities.

Attending a conference focused on your child's condition can be transformative. These gatherings bring together families, researchers, doctors, and advocates in one place. You'll hear about the latest research, learn from medical experts, meet families at different stages of the journey, and let your child connect with others like them.

Many families describe their first conference as the moment they felt less alone. While attending may require travel and expense, many organizations offer scholarships or financial assistance to help families participate. If you can go, it's often worth it.