Understanding Jacobsen Syndrome
At Laila’s Gift, we are dedicated to celebrating and supporting children with special needs and their families.
One of the rare conditions we focus on is Jacobsen Syndrome, a genetic disorder that touches the lives of children and families across the nation. This page provides vital information about Jacobsen Syndrome, helping to raise awareness and understanding of this unique condition.
What is Jacobsen Syndrome?
Jacobsen Syndrome, also known as 11q deletion disorder, is a rare genetic condition caused by the deletion of genetic material on the long arm of chromosome 11.
This condition affects approximately 1 in 100,000 newborns, with slightly more females diagnosed than males. Jacobsen Syndrome can lead to a variety of developmental delays, physical characteristics, and medical challenges, each of which varies from individual to individual.
What Are the Symptoms of Jacobsen Syndrome?
The symptoms of Jacobsen Syndrome can be diverse and may include:
- Developmental Delays:
These can include speech delays, motor skill challenges, and cognitive impairments. - Distinctive Facial Features:
Individuals with Jacobsen Syndrome may have features such as wide-set eyes, a small jaw, or a broad nasal bridge. - Congenital Heart Defects:
Heart abnormalities are common and may require medical intervention. - Bleeding Disorders:
Many individuals have thrombocytopenia (low platelet count), which can lead to excessive bruising or bleeding. - Behavioral Traits:
Some may exhibit traits associated with ADHD or autism spectrum disorder.
It is important to note that every child with Jacobsen Syndrome is unique, and their experiences with the condition will vary.
How Can Laila’s Gift Help?
At Laila’s Gift, we understand the complexities of raising a child with Jacobsen Syndrome.
Our programs are designed to provide:
- Emotional Support: Through our “Navigating Adversity” program, families can connect with others who understand their journey.
- Inclusive Celebrations: Our “Celebrating Milestones” program ensures every child feels cherished on their special days.
- Caregiver Resources: From our podcast, Caregiving Unboxed, to practical guides, we empower families with the tools they need.
Innovative Research and Expert Care in Pediatric Cardiology
Dr. Paul Grossfeld’s Work on Congenital Heart Defects and Hypoplastic Left Heart Syndrome.
Dr. Paul Grossfeld is a board-certified pediatric cardiologist and Professor of Pediatrics at the UCSD School of Medicine. In his clinical practice, he cares for patients with congenital heart disease, while also leading a research program focused on the genetic underpinnings of congenital heart defects. His primary research interest is in understanding the molecular and cellular mechanisms of Hypoplastic Left Heart Syndrome (HLHS), a fatal condition where the main pumping chamber of the heart fails to develop properly. HLHS is the leading cause of death among infants born with congenital heart disease.
Dr. Grossfeld’s research journey was inspired during his first month of pediatric cardiology training in July 1995 at UCSD, when he cared for a patient with defects affecting the left-sided structures of the heart, associated with a genetic condition called Jacobsen syndrome (JS). This pivotal moment led him to focus on HLHS, with the belief that studying JS could not only help these rare patients but also provide insights beneficial for the broader population, particularly those with HLHS. His work combines human genetics with genetically engineered animal model systems to identify critical genes, such as ETS1 and FLI1 on chromosome 11, which are implicated in HLHS and other congenital heart defects.
Pioneering Research in Congenital Heart Defects
From Early Inspiration to Transformative Advances in Hypoplastic Left Heart Syndrome and Jacobsen Syndrome
In addition to his work at UCSD, Dr. Grossfeld collaborates with experts across multiple institutions, including the Sanford-Burnham-Prebys Medical Discovery Institute, the Georgia Institute of Technology, and Rady Children’s Hospital of San Diego. Their combined efforts use cutting-edge technologies and animal models—ranging from fruit flies and zebrafish to frogs and mice—to study the pathogenesis of HLHS. These groundbreaking insights are already paving the way for personalized, precision medicine approaches for HLHS patients, marking a transformational step in the treatment of HLHS and related congenital heart defects.
Beyond his research, Dr. Grossfeld serves as the Chief Medical Advisor for both the European and U.S. Jacobsen syndrome support groups. He has brought together a team of experts to provide critical, life-saving information for families to share with their physicians. Additionally, Dr. Grossfeld is a cardiology consultant for the U.S. Olympic Volleyball program, where he has helped develop a comprehensive cardiac screening program for athletes.
How Can You Help?
Your support allows us to continue advocating for and celebrating children with Jacobsen Syndrome and their families.
Consider becoming a monthly donor through our “Celebrators” program or volunteering to make a difference in the lives of these amazing children.
Together, We Can Bloom in Inclusiveness
Jacobsen Syndrome is rare, but the love and resilience of the families it touches are extraordinary.
By raising awareness and providing support, we can ensure every child with Jacobsen Syndrome has the opportunity to thrive.