Xia-Gibbs Syndrome is a rare genetic disorder in which the AHDC1 gene is altered or missing.
The genetic change which causes the syndrome is usually 'de novo', which means that it arises spontaneously in the child and is not passed down by either parent.
We now know that Xia-Gibbs Syndrome is a neuro-developmental disorder that originates in the brain, causing physical and intellectual disability. Many people affected by the syndrome experience breathing difficulties, sleep apnea and seizures. Many also meet criteria for autism and most require significant ongoing care.
The condition was discovered in 2014 and only a small number of people around the world have been diagnosed, most of them children. This means that little is known about the condition and how it might affect people in adulthood.
While little is yet known about the condition and only a small number of people have been diagnosed, it is likely that there are many more with the syndrome around the world whose families and doctors are simply unaware of the condition and remain without diagnosis.