The Aarskog Foundation Cover Photo
We are a global patient and parent run network of children and families across 32 countries, 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. Aarskog Syndrome AS is an X-linked recessive, rare genetic condition only discovered by Dagfin Aarskog 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 over 85% of females are carriers. Adult onset of an autoimmune disease is to date an extremely common observation in our community. 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.

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