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KBG Syndrome Awareness Day

Raising awareness, fostering understanding, and supporting research for a condition that impacts lives and inspires unity.

Body & Health Healthcare35

Marketing angleinferred

Partner with the KBG Foundation to drive awareness, fundraising, and research support through grassroots community engagement and merchandise sales.

Relevance 35low intent

Share family stories and patient testimonials to humanize the rare genetic condition
Launch a rock-painting social media challenge with branded hashtags to engage families and drive awareness
Promote KBG Foundation merchandise and donation opportunities as a way to support research and care packages for affected families
Create educational content about KBG syndrome symptoms, genetic research breakthroughs, and support resources

History

KBG syndrome has a history that can only be traced back less than 50 years.

While it may have been present prior to that time, it wasn’t until 1975 that doctors observed the condition and gave it a description. Eventually, advances in medicine allowed researchers to find the gene that is responsible for the unique characteristics in those born with it.

Because this genetic syndrome affects several body systems and is indicated by the ANKRD11 gene, the way that it presents can vary in different people.

Signs and indicators of KBG syndrome may include skeletal abnormalities such as short fingers or scoliosis, as well as hearing loss, feeding difficulties, epilepsy and possibly other brain malformations.

Some distinctive facial features for those with KBG syndrome may include a V-shaped face, unusually large upper front teeth, a thin upper lip, a prominent nose bridge, wide eyebrows that grow close together, or a short wide skull.

KBG Syndrome Awareness Day was first celebrated in 2016 by the KBG Foundation, a non-profit organization dedicated to support and research.

The choice of the day, June 11, acts as a little nod to the ANKRD11 gene. The purpose of the day is to educate and inform the public about this extremely rare neurodevelopmental disorder so that people can familiarize themselves with it and act supportively for those affected by it.

How to celebrate

Support the KBG Foundation

Folks who want to learn how to get more involved with KBG Syndrome Awareness Day can find out more at the KBG Foundation website. Information on ways to help the foundation include raising awareness, volunteering, fundraising, promoting research or making financial donations. The website also offers opportunities to provide items for care packages to be sent to families of children with KBG syndrome, purchase KBG syndrome support merchandise, or print out free resources about the day.

Paint a Rock for KBG Syndrome

The founders of KBG Syndrome Awareness Day encourage individuals and families to engage in some rock painting activities to raise awareness for the day. It’s a great way to get the kids involved by painting colorful rocks, sharing the photos on social media, and placing them in public spaces to be found by others who can look up the hashtags for the day and learn more about the syndrome. Photos can also be shared through the KBG Foundation website!

FAQ

What causes KBG syndrome at the genetic level?

KBG syndrome is caused by a change in a gene called ANKRD11, which provides instructions for a protein involved in regulating the activity of many other genes during development. Most people with KBG syndrome have either a loss of function variant in ANKRD11 or a small deletion that removes the gene. This disruption affects how the brain, bones, and other organs develop, which leads to the characteristic combination of physical features, learning differences, and other medical issues seen in KBG syndrome.[1]

How is KBG syndrome inherited, and can it appear “out of the blue” in a family?

KBG syndrome follows an autosomal dominant inheritance pattern, which means that a change in just one copy of the ANKRD11 gene can cause the condition. A person with KBG syndrome has a 50 percent chance of passing the altered gene on to each child. However, many affected individuals are the first in their family to have the condition, due to a new (de novo) genetic change that occurred in the egg or sperm or very early in development, so the condition can appear with no previous family history.[1]

What are some common medical and developmental features of KBG syndrome?

Most people with KBG syndrome have a mix of features that can include distinctive facial traits, short stature, skeletal differences such as spine curvature or short fingers, and unusually large upper front teeth. Developmental delay, intellectual disability of variable degree, and differences in speech, learning, and behavior are also common. Some individuals experience seizures, hearing loss, feeding difficulties, or heart, kidney, or brain structural differences, although not everyone has all of these findings and the severity can vary widely.[1]

How is KBG syndrome diagnosed?

Diagnosis typically starts with a clinical evaluation by a specialist who notes characteristic features and developmental history, then is confirmed with genetic testing. Modern tests such as multigene panels, exome sequencing, or chromosomal microarray can detect disease‑causing variants or deletions in ANKRD11. Because the signs can overlap with other conditions and may be subtle, especially in young children, genetic testing is often essential to distinguish KBG syndrome from other neurodevelopmental or skeletal disorders.

What is known about life expectancy and long‑term outlook for people with KBG syndrome?

Available reports suggest that many individuals with KBG syndrome reach adulthood and can live long lives, although long‑term data are limited because the condition is rare and has only been recognized for a few decades. Intellectual ability, medical complications, and independence in daily life vary widely. With appropriate medical care, therapies, and educational and social support, many people with KBG syndrome make ongoing developmental gains and can participate in school, work, and community life to varying degrees.[1]

What role does genetic counseling play for families affected by KBG syndrome?

Genetic counseling helps families understand how KBG syndrome occurred, what the recurrence risks are, and what reproductive options they may have. A counselor can explain autosomal dominant inheritance, clarify whether a variant arose de novo or was inherited, and discuss testing for parents, siblings, or future pregnancies when appropriate. Counseling also connects families with resources, support organizations, and up‑to‑date information about research and management of ANKRD11‑related conditions.[1]