ANKRD11

Parents

KBG syndrome was first described in 1975, and its name is derived from the initials of the first three patients reported with the condition.

People with KBG have a characteristic (though subtle) facial appearance, very large permanent teeth, and variable degrees of developmental delay and learning difficulty. As the appearance is subtle, the diagnosis may not be made until the permanent teeth come through.

Other features seen in some affected individuals include short stature, epilepsy, undescended testes, rib and spine anomalies and conductive hearing loss usually caused by glue ear.\

The condition affects boys and girls, and there are both mildly and more severely affected individuals of both sexes.

KBG syndrome is caused by changes (mutations) in or a deletion of the ANKRD11 gene on  chromosome 16q24.3. Most affected people are the first person in their family to carry the gene change, but a small proportion have inherited it from a parent, who is likely to have features of KBG syndrome.

KBG syndrome is probably rare, but no-one knows exactly. It is likely that many people are not diagnosed because many of the features can be mild, including learning disabilities in those with a change (mutation) in ANKRD11.

For additional information, please see:

ANKRD11 and KBG syndrome – Rarechromo.org [Website URL: http://www.rarechromo.org/information/Chromosome%2016/ANKRD11%20and%20KBG%20syndrome%20QFN.pdf]