RARECONNECT
KBG Syndrome is caused by a mutation in the ANKRD11 gene at location 16q.24.3 which creates a shortening of a scaffolding protein in that region. This short protein may be completely ineffectual or may be somewhat functioning which contributes to the variety and severity of the symptoms. Nearly all patients present with large upper front teeth, bushy eyebrows and triangular faces. The 'KBG appearance' is quite distinctive and is usually the first noticeable trait along with developmental delay and other bone anomalies. For no known reason, males seem to be more affected than females. Treatment is determined on a case by case basis as symptoms arise. There is no cure, only management. The more patients are identified, the more likely a cure will be found. Source: KBG Foundation
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