KGB Syndrome Awareness Day Date in the current year: June 11, 2025

KGB syndrome is caused by a mutation in the ANKRD11 gene, which encodes the ankyrin repeat domain 11 protein. This protein plays several important roles in gene regulation and development, particularly neurodevelopment. Herrmann et al. first described the syndrome in 1975 and named it after the first letters of the affected families’ last names, which have not been disclosed to the public.

The mutations responsible for KGB syndrome shorten the ANKRD11 protein, which may impair its function or render the protein completely ineffective, resulting in a variety of symptoms. Nearly all patients have distinctive features that contribute to the so-called “KGB appearance”: large upper front teeth (macrodontia), bushy eyebrows that may grow together, and a triangular face. Other distinctive facial features may include widely spaced eyebrows, a prominent nasal bridge, a thin upper lip, and a long medial cleft.

Symptoms may include cervical ribs (extra ribs located above the first rib), congenital heart defects, delayed bone age, short hand bones, undescended testes, abnormal spine curvature, hip dysplasia, abnormal EEG with or without seizures, short and curved pinky fingers, short stature, flat feet, developmental delays, mild to moderate intellectual disability, autistic traits, hearing loss, attention deficit hyperactivity disorder (ADHD), anxiety, and more.

There is no cure or specific treatment for KGB syndrome. Treatment varies on a case-by-case basis, depending on the symptoms and their severity. It may include speech therapy, occupational therapy, behavioral therapy, special education, psychological or psychiatric care, and medication for symptoms such as seizures.

The good news is that KGB syndrome does not shorten life expectancy. Although it presents ongoing challenges, many patients can lead fulfilling lives with individualized care and consistent support. Those with mild symptoms can get employed and live independently as long as the condition is properly managed.

As mentioned, KGB syndrome is rare, with fewer than 1,000 individuals diagnosed worldwide. However, it is believed to be underdiagnosed due to a lack of awareness in the medical community and the general public. This is why the KGB Syndrome Foundation, a nonprofit organization that raises awareness of the condition, provides support to patients and families affected by KGB and advances research, created KGB Syndrome Awareness Day.

The inaugural KGB Syndrome Awareness Day was observed on June 21, 2016, by 71 affected families. The following year, the date was changed to June 19, the day Annette and Glenn Maughan (the future founders of the KGB Syndrome Foundation) learned their son had been diagnosed with KGB. In 2021, the date was changed to June 11 to avoid conflict with Juneteenth. The number 11 references the ANKRD11 gene.