Xia-Gibbs Syndrome is a genetic disorder caused by a mutation in the AHDC1 gene.
The mutation is 'de novo', which means that it arises spontaneously in the child and is not passed down by either parent.
The condition was discovered in 2014 and already 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.
People with Xia-Gibbs Syndrome experience global developmental delay which is thought to lead to intellectual and physical disabilities of varying severity. Some people experience sleep apnea and require breathing support at night, some have seizures. Many require significant care and assistance from their parents and other family members.
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.