The Aarskog Foundation

We are a Scottish based charity that powers a patient and parent run network of children and families, living with the Rare Disease, Aarskog Syndrome. Our primary purposes are in identifying and supporting our patients, carriers and families living with Aarskog Syndrome, by creating better provision and support regarding access to long term, lifelong healthcare and management, education and improved research pathways.
Some information on the condition itself, Aarskog Syndrome: AS is an X-linked recessive, rare genetic condition only discovered 50 years ago by Dagfin Aarskog, a Norwegian professor of pediatrics at the University of Bergen in 1970. X-linked inheritance means that the gene actually causing Aarskog Syndrome (FGD1) is located on our X chromosome.
Females have two X chromosomes; males have one X and one Y. Only males actually have Aarskog Syndrome however, we see a large percentage of females who carry the FGD1 Gene in our community many of which have an adult onset of Autoimmune Diseases, such as Inflammatory and Rheumatoid Arthritis.
The prevalence of Aarskog Syndrome is 0.4 per Million. In the UK and across the world patients, carriers, parents, and families are struggling within health and education as very little information exists in society about what Aarskog Syndrome is or what it is like living with Aarskog Syndrome. To date Aarskog Syndrome is a known RARE genetic condition with no known cure.

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