FAQ

It is important to know that the elements described below vary from individual to individual. However, a number of markers can be identified:

• May have a larger head with a prominent forehead.
• May have a smaller lower jaw.
• May have more widely spaced eyes (hypertelorism)
• May have drooping eyelids (ptosis).
• May have crossed eyes (strabismus).
• May frequently have a weaker immune system, which can lead to conditions like ear infections.
• May have difficulty drinking as a baby.
• May have constipation.
• May be smaller than other children of the same age.
• May need more time to learn to walk and talk.
• Generally has  an intellectual disability, but this may not always be the case.
• May sometimes have heart or kidney issues.
• Sometimes, the fingers and toes may be partially fused (syndactyly).
• Sometimes, may have a crooked spine (scoliosis).
• Sometimes, may have genital abnormalities.
• Is often more prone to bruising and bleeding due to Paris-Trousseau syndrome.

It is estimated to occur in about 1 in 100,000 births, with a female/male ratio 2:1. However, these numbers vary depending on the sources and studies.

Given its rarity, there are no precise data on the exact rates in all countries, but it remains an uncommon genetic disorder.

With proper medical care, doctors aim to alleviate the symptoms. For instance, if a baby has difficulty feeding, they may receive nutrition through a tube. Medications or a fiber-rich diet can help with constipation. If children are not growing well, the doctor may sometimes prescribe growth hormones. Medications can also be given to treat ear inflammation. Speech therapy can support language development, while physical therapy helps with learning to walk and move. Children with intellectual disabilities may benefit from special education. In the case of Paris-Trousseau syndrome, medication or blood transfusions may be necessary. Sometimes, the doctor can intervene to correct scoliosis. In some cases, surgeries may be performed on the heart, kidneys, or genital organs. 

Jacobsen syndrome is a genetic disorder that usually originates in the child itself, meaning the parents are not affected. However, a child can pass this syndrome on to their own children. Sometimes, Jacobsen syndrome is inherited from one of the parents. This is the case when a parent has a translocation.

From our experience that is obvioulsy subjective, people with Jacobsen syndrome can lead happy, semi-independant, fulfilling and worthwhile lives, even though they will face challenges. We have members doing part time, paid work in the community, and living away from their families in supported independent housing. 

If you want to know more, please contact one of our members. 

The life expectancy of individuals with Jacobsen syndrome varies depending on the severity of the symptoms and the complications associated with the condition. Jacobsen syndrome is a rare disorder, so the life expectancy is quite unknown. However, recent advancements in treatment of congenital heat disease, awareness around risk of bleeding and treatment of immunodeficiency have improved outcomes for individuals with Jacobsen syndrome.

With these advancements, individuals with Jacobsen syndrome can expect better health outcomes and an improved quality of life. Regular follow-up and personalized medical care remain crucial in managing the condition effectively.

It is important to note that each case is unique and the expectation largely depends on the specific health issues encountered by the individual.

Semi-independent living in adulthood may be possible for some individuals. It will often require ongoing support, depending on their abilities and needs. It is important to work with a team of healthcare professionals, educators, and therapists to maximize the chances of independence and quality of life.

The genetic deletion associated with Jacobsen syndrome typically involves a loss of genetic material on chromosome 11. The size of the deletion can vary from one person to another.
The deletion can range from a few million base pairs (a small portion of the chromosome) to larger deletions, sometimes involving significant regions of the chromosome. In general, the deletion can cover from 4 to 16 megabases on chromosome 11.
The size of the deletion impacts the severity of the symptoms, with larger deletions often leading to more pronounced symptoms.

The need for special education for a child with Jacobsen syndrome depends on the severity of their intellectual and developmental challenges, which can vary based on the size and location of the deletion. Many children with Jacobsen syndrome benefit from specialized educational support tailored to their individual needs.

Special education can provide a structured environment, individualized learning plans, and additional resources to help your child develop skills in areas like communication, social interaction, and motor functions. Early intervention, including therapies such as speech and occupational therapy, can further support their learning and development.

It’s important to work closely with healthcare professionals, educators, and therapists to assess your child's abilities and determine the best educational approach for them.

Yes! Individuals are capable of various talents, including singing, dancing, being extremely creative, and great social skills. Most people with Jacobsen syndrome are very loving and very trusting.

Each case is unique, but it is crucial to provide the right support for your child. You will likely need to consult a geneticist, pediatrician, immunologist, cardiologist, and hematologist to fully understand the syndrome. It is our experience that over time the appointments with doctors tend to become less frequent. Depending on your child's development, support therapies such as a speech therapy, physiotherapy or occupational therapy will continue until adulthood. In general, the more you stimulate and support your child, the more you will aid their development.

No matter where you live, you can reach out to us for support. We provide information and updates on research related to the chromosome 11 syndromes while also offering practical assistance. 

Of course you can also reach out to our partner networks in the United States, South America and Spain. You can find them in Partners section.

In Europe, financial aids are available for the medical and therapeutic care of children with Jacobsen syndrome. These vary by country. 

• Generally, public health systems cover part of the medical care and specialized treatments. 

• Allocations or support may also be available for families of children with rare diseases.

• Coverage for therapies such as speech therapy or physiotherapy may be offered by health services or health insurance funds. 

• Additionally, tax reductions or social aid may exist for families, and associations may provide practical and financial support. 
  We recommend contacting a family from your country to learn more.

There are no specific dietary recommendations for children with Jacobsen syndrome. However, many children with Jacobsen syndrome have growth issues or difficulty eating, in which case nutritional monitoring may be necessary. It is recommended to consult a pediatrician or nutritionist for tailored advice based on the child's specific needs, especially if digestive issues or feeding difficulties are present.

Research on Jacobsen syndrome is still ongoing, but given the rarity of this genetic condition it is limited.

However, recent advancements have allowed for a better understanding of the underlying mechanisms of the syndrome and its effects on child development. Progress includes the identification of genes involved in the syndrome, leading to a deeper understanding of the symptoms and complications.

Additionally, researchers are working on innovative therapeutic approaches to improve the quality of life for patients, including targeted treatments to manage immune deficiencies.

Research is progressing and brings hope for better treatment options in the future.

You can find more detailed information on research here.

To help siblings better understand and support a child with Jacobsen syndrome, it is important to provide them with age-appropriate information so they can understand the challenges their sibling faces. Encouraging open communication, where they feel free to ask questions and express their emotions, is key. Involving them in daily activities, depending on their abilities, and acknowledging their feelings are also important ways to support them.

A child with Jacobsen syndrome may take significant amounts of time and energy from all family members. It is crucial that each child has their own space and moments dedicated to them.

We’ve noticed that siblings really enjoy meeting other children in similar situations at the conferences we organize. Year after year, regardless of their age, they look forward to these gatherings and often form strong bonds. Some of them have shared testimonies on their experiences growing up with a brother or sister with Jacobsen syndrome. 

To learn more about our upcoming activitities, see our events page.

Join our association: There are several associations and organisations dedicated to Jacobsen syndrome, and ours brings together families in Europe. You can also find similar associations for other regions here. We provide a space to share experiences, ask questions, and get valuable information. Our contact details are available here.

Attend meetups or events: Every two years, we organise a gathering for families to meet and discuss Jacobsen syndrome and other chromosome 11 disorders. You'll find informations about our next event will take place here!

Use social media: Private groups on social media, such as Facebook, are an excellent way to connect with other families. These groups allow you to share resources, ask questions, and chat with people who understand your situation. Find our association on Facebook here

Learning that your child has Jacobsen syndrome can be an emotionally challenging and stressful experience. Everyone reacts differently, but here are some suggestions for managing these emotions:

Take the time to understand your emotions

It’s normal to experience a range of emotions: sadness, anger, anxiety, or even guilt. Allow yourself to feel these emotions without judgment and take the time you need to process them.

Educate yourself about Jacobsen syndrome

Becoming familiar with the diagnosis can reduce uncertainty and give you a sense of control. Talk to healthcare professionals, join associations (such as our network), read through medical articles or visit the webpages of our partners. If you wish, you can find contacts in the "Contact" section.

Seek support

Share your feelings with trusted people, such as your partner, friends, or family members. From our perspective, joining parent groups who have gone through similar journeys can be incredibly comforting and inspiring.

Consult professionals

A psychologist or specialized counselor can help you manage your stress and develop strategies to cope with this new situation.

Practice relaxation techniques

Activities like yoga, meditation, or deep breathing exercises can help you better manage stress.

Plan a realistic but positive future

Work with healthcare professionals to create a care plan for your child. Knowing you have a plan in place can help you feel more confident about the future.

Take care of yourself

Each parent goes through this period differently, but it’s important to remember that you’re not alone and that resources are available to support you on this journey.

Remember, no matter what challenges lie ahead, you are not alone in this journey. Support, understanding, and happiness will always be found along the way.