KBG syndrome is a rare genetic disorder caused by a mutation or loss of genetic material on chromosome 16q and affects several body systems. “KBG” represents the surname initials of the first three families diagnosed with the disorder. Common signs and symptoms of this condition include unusual facial features, skeletal abnormalities, intellectual disability, hearing loss, seizures, and heart defects.

Most commonly asked questions:

  1. Is KBG syndrome genetic?
    It depends! The mutations can occur spontaneously with no family history or be inherited. In Emilee’s case, it is completely spontaneous.

  1. Is KBG syndrome new?
    Good question! We believe the syndrome was first discovered, or written about in medical literature, in 1975. The research and data on KBG is minimal – almost nonexistent – making it extremely difficult for both families and doctors to navigate.

  1. How many people have KBG syndrome?
    Not a whole lot! As of February 2021, fewer than 600 people worldwide, most of whom are children, have been diagnosed with KBG syndrome.

  1. Is KBG syndrome similar to autism?
    KBG syndrome can often be misdiagnosed as autism, but they are both very different.

Donate to Every Links Matters via Venmo

Scan the QR code above or click the button below to donate with Venmo.