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  1. Kbg syndrome | About the Disease | GARD

    KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability.

  2. HOME | KBG Syndrome

    What is KBG Syndrome KBG Syndrome is a rare genetic syndrome that can affect anyone but generally shows up in childhood. Learn more about how it can affect you or your child.

  3. KBG Syndrome - Symptoms, Causes, Treatment | NORD

    Jul 18, 2025 · KBG syndrome (KBGS) is a rare genetic disorder characterized by large front teeth (macrodontia), characteristic facial features, short to normal stature, developmental delay and …

  4. KBG syndrome: MedlinePlus Genetics

    KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity.

  5. KBG syndrome - Wikipedia

    KBG syndrome is a rare genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3. [1] Only about a hundred known cases have been reported, although it is expected …

  6. hat is KBG syndrome? KBG syndrome was first described in 1975, and its name is derived from the initials of the first three patients reporte.

  7. KBG Foundation

    Your contributions enable us to continue funding research into better understanding KBG syndrome and pursuing treatments, as well as supporting families through our programs.