KBG syndrome is a rare genetic disease caused by a mutation in the ANKRD11 gene, located at position 16q24.3 on the chromosomes. Only about one hundred cases have been reported in the literature, although the syndrome is expected to be under-reported. It was first described by Herrmann in 1975, in three separate families. Herrmann gave it the name KBG after the initials of the surnames of those affected families, which are not known to the general public, so the label records the history of its discovery rather than any feature of the disease itself.
Facts
Causative Agent
Causative Agent (category) First Described Sources
1. KBG syndrome (Wikipedia)
Lead section
rare genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3
Lead section [first-described-year]
The syndrome was first described by Herrmann in 1975 in three distinct families.
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