Last Updated: 8 August 2024
Aarskog-Scott Syndrome
Last Updated: 8 August 2024
Aarskog-Scott Syndrome
Aarskog-Scott syndrome, a rare genetic disorder primarily affecting males, is characterised by distinctive facial, skeletal, and genital abnormalities. Symptoms include hypertelorism, short stature, and shawl scrotum. Caused by mutations in the FGD1 gene, diagnosis typically involves genetic testing. Management focuses on symptomatic treatment and supportive care.
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Aarskog-Scott Syndrome
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