Aarskog Syndrome Awareness Day is observed worldwide every September 29 to educate the public about Aarskog syndrome, a rare genetic disorder characterized by distinctive facial features and various abnormalities. The day was established by the UK-based Aarskog Foundation to support those affected by the syndrome and their families, while also encouraging further research into potential treatments. Aarskog syndrome, also known as Aarskog-Scott syndrome, is caused by mutations in the FDG1 gene and primarily affects males due to its X-linked recessive inheritance pattern. Individuals with the syndrome may exhibit symptoms such as distinctive facial features, hand abnormalities, and varying degrees of intellectual development. The observance aims to inform healthcare professionals and the public about the disorder, highlighting the need for better understanding and management of its symptoms.
September 29: Aarskog Syndrome Awareness Day
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