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Understanding FBXO11

What is FBXO11?

  • FBXO11 is the name of a gene.

  • Genes are like instructions that tell our bodies how to grow, develop and function.

  • The FBXO11 gene helps control important processes inside our cells, including how certain proteins are managed and removed when they are no longer needed.

  • A change, also called a variant, in one copy of the FBXO11 gene can prevent the gene from working as expected.

  • When an FBXO11 variant affects a person’s development or health, it may be called FBXO11-related syndrome.

What does FBXO11-related syndrome mean?

  • FBXO11-related syndrome is a rare genetic neurodevelopmental condition.

  • “Neurodevelopmental” means that it can affect how the brain and nervous system develop and function.

  • It is sometimes listed in medical databases under the longer clinical name intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, or IDDFBA.

  • Raising Rare recommends using FBXO11-related syndrome because it is easier to understand, more respectful and better reflects the wide range of people affected.

How can FBXO11 affect a person?

Every person with FBXO11-related syndrome is different. Reported traits may include:

  • Delayed speech or difficulty communicating

  • Delayed walking or other motor-development differences

  • Learning or intellectual disabilities

  • Low muscle tone (hypotonia)

  • Autism-related characteristics

  • Attention, behaviour or sensory differences

  • Sleep difficulties

  • Seizures in some individuals

  • Vision problems

  • Differences in growth, head size or physical development

Important message for families

  • Not every person will have every characteristic

  • The type and level of support needed can vary significantly.

  • Some people may communicate verbally, while others may use alternative communication methods.

  • Some may walk independently, while others may need mobility support.

  • A genetic diagnosis does not define a child’s personality, strengths, potential or quality of life, and published cases show a wide range of development and support needs.

What Causes It?

  • Everyone normally has two copies of the FBXO11 gene, one inherited from each biological parent.

  • In many diagnosed individuals, the FBXO11 variant is de novo.

  • De novo means the genetic change is new in the child and was not detected in either parent.

  • It usually happens by chance when an egg or sperm is formed, or very early after conception.

  • It is not caused by anything a parent did or did not do.

How Rare Is It?

  • FBXO11-related syndrome is considered ultra-rare.

  • Simons Searchlight reported that, as of 2024, at least 84 people had been identified through medical clinics.

  • That number does not necessarily represent everyone with the condition. Other people may be undiagnosed, misdiagnosed or not included in published research and registries.

  • Because so few individuals have been studied, researchers are still learning about the full range of development, health needs and long-term outcomes associated with FBXO11.

Is There a Treatment?

  • There is currently no established treatment that corrects the underlying FBXO11 genetic change.

  • Current care focuses on the individual’s needs and may include:

    • Speech and language therapy

    • Physiotherapy

    • Occupational therapy

    • Behavioural or developmental support

    • Communication devices or alternative communication methods

    • Educational support

    • Treatment for seizures, sleep problems, vision concerns or other medical needs

  • The appropriate care plan will be different for every individual and should be developed with qualified healthcare professionals.

The Mission

We are dedicated to advancing the development of a groundbreaking gene therapy for FBXO11. Our mission is to provide families with the hope and resources needed to navigate the complex landscape of rare genetic mutations and find the answers they deserve.

The Vision

Our long-term vision is to transform the lives of families affected by rare genetic disorders. By fostering collaboration between leading research centers and empowering communities, we aim to create a world where every child has access to the cutting-edge medical care they deserve.

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