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What is the prevalence of Simpson-Golabi-Behmel syndrome?

How many people does Simpson-Golabi-Behmel syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and other developmental abnormalities. It primarily affects males, but females can also be affected, albeit with milder symptoms. The exact prevalence of this syndrome is unknown, but it is estimated to occur in approximately 1 in 15,000 to 60,000 births. Due to its rarity, Simpson-Golabi-Behmel syndrome is considered a relatively uncommon condition. Early diagnosis and appropriate medical management are crucial for individuals with this syndrome to optimize their health and well-being.



Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder characterized by various physical and developmental abnormalities. It primarily affects males, although females can also be affected, albeit with milder symptoms. SGBS is caused by mutations in the GPC3 or GPC4 genes, which are involved in regulating cell growth and development.



The prevalence of Simpson-Golabi-Behmel syndrome is difficult to determine precisely due to its rarity and the wide range of symptoms it presents. However, it is estimated to affect approximately 1 in 10,000 to 30,000 live births. The syndrome is more commonly identified in certain populations, such as the Amish community, where the prevalence may be higher.



Individuals with SGBS may exhibit a variety of physical features, including overgrowth, distinctive facial characteristics, heart defects, skeletal abnormalities, and an increased risk of developing certain tumors. Additionally, developmental delays, intellectual disabilities, and behavioral issues can also be present.



Early diagnosis and appropriate management are crucial in improving the quality of life for individuals with SGBS. Genetic testing and thorough clinical evaluations are essential for accurate diagnosis. Treatment typically involves a multidisciplinary approach, addressing the specific symptoms and complications associated with the syndrome.


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Stories of Simpson-Golabi-Behmel syndrome

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Simpson-Golabi-Behmel syndrome stories
My son was diagnosed in 2005 with a Simpson Golabi Bhemel Syndrome. It is a very rare overgrown that only affects 300 people world wide. Little is know about this and we struggle every day. I would love to know more about this this way I can share wi...

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