Xia-Gibbs Syndrome is a rare genetic disorder in which the AHDC1 gene is mutated 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.
Xia-Gibbs Syndrome is neurodevelopmental in nature, which means it affects the way the brain and nervous system function and unfolds as the individual develops and grows.
Some of the symptoms are listed below. (Not everyone with XGS experiences all of these symptoms, and the extent to which they are experienced varies):
● Global developmental delay (development of speech may be particularly affected)
● Hypotonia (poor muscle tone),
● Respiratory issues: sleep apnea, laryngomalacia (which can lead to disturbed sleep and feeding difficulties)
● The syndrome’s effect on behaviour significantly overlaps with autism spectrum disorders
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.