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What is the prevalence of Aarskog-Scott Syndrome?

How many people does Aarskog-Scott Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Aarskog-Scott Syndrome

Aarskog-Scott Syndrome is a rare genetic disorder that primarily affects males. It is estimated to have a prevalence of approximately 1 in 25,000 to 1 in 80,000 individuals worldwide. The syndrome is characterized by distinctive facial features, short stature, and various skeletal and genital abnormalities. While it is considered a rare condition, it is important to consult with healthcare professionals for accurate diagnosis and management of Aarskog-Scott Syndrome.



Aarskog-Scott Syndrome is a rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in 25,000 to 1 in 80,000 individuals, making it a relatively uncommon condition. The prevalence may vary across different populations and regions.


This syndrome is characterized by a range of physical, developmental, and facial abnormalities. Common features include short stature, facial differences such as a broad nasal bridge and widely spaced eyes, as well as skeletal and genital abnormalities. Additionally, individuals with Aarskog-Scott Syndrome may experience mild intellectual disability, although intelligence can vary widely.


Due to its rarity, Aarskog-Scott Syndrome can often go undiagnosed or misdiagnosed, leading to challenges in understanding its true prevalence. Genetic testing and clinical evaluation are typically used to confirm the diagnosis. Early intervention and management of symptoms can help improve the quality of life for individuals with this syndrome.


It is important to consult with a healthcare professional or genetic specialist for accurate information and guidance regarding Aarskog-Scott Syndrome.


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