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What is the prevalence of Shprintzen-Goldberg Syndrome?

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

Prevalence of Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg Syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. The prevalence of this syndrome is estimated to be extremely low, with only a few hundred cases reported worldwide. Due to its rarity, it is considered a very uncommon condition. Shprintzen-Goldberg Syndrome affects multiple systems in the body, including the skeletal, cardiovascular, and nervous systems. It is important for individuals with suspected symptoms to consult with a healthcare professional for accurate diagnosis and appropriate management.



Shprintzen-Goldberg Syndrome (SGS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of craniofacial, skeletal, and cardiovascular abnormalities. The prevalence of SGS is not well-established due to its rarity and the lack of comprehensive population studies.


However, it is estimated that SGS affects approximately 1 in every 50,000 to 100,000 individuals. The syndrome has been reported in various ethnic groups and both genders, suggesting no specific predisposition. SGS is typically diagnosed in infancy or early childhood based on clinical features and genetic testing.


Individuals with SGS may exhibit distinct facial features such as a long, narrow face, a high forehead, and a prominent jaw. Skeletal abnormalities can include scoliosis, joint hypermobility, and a tall stature. Cardiovascular issues, such as aortic aneurysms or mitral valve prolapse, are also common in SGS.


Due to the rarity of SGS, it is crucial for affected individuals and their families to seek medical attention from healthcare professionals experienced in managing the syndrome. Early diagnosis and appropriate management can help improve the quality of life for individuals with SGS.


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Prevalence of Shprintzen-Goldberg Syndrome

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World map of Shprintzen-Goldberg Syndrome

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Shprintzen-Goldberg Syndrome forum

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