What is the prevalence of Floating-Harbor syndrome?
How many people does Floating-Harbor syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Floating-Harbor syndrome is a rare genetic disorder characterized by specific facial features, short stature, and delayed bone age. It is caused by mutations in the SRCAP gene. The prevalence of this syndrome is currently unknown, but it is estimated to affect less than 1 in 1 million individuals worldwide. Due to its rarity, it can often go undiagnosed or misdiagnosed. Early recognition and appropriate medical management are crucial for individuals with Floating-Harbor syndrome to optimize their quality of life.
Floating-Harbor syndrome is a rare genetic disorder that was first described in 1973. It is characterized by a distinct set of physical and developmental features. The prevalence of this syndrome is difficult to determine precisely due to its rarity and the lack of comprehensive data. However, it is estimated to affect approximately 200 individuals worldwide.
Individuals with Floating-Harbor syndrome typically experience growth delays, resulting in short stature. They may also have a characteristic facial appearance, including a triangular-shaped face, deep-set eyes, a wide mouth, and a thin upper lip. Additionally, they may have speech and language delays, intellectual disability, and skeletal abnormalities.
While the exact cause of Floating-Harbor syndrome is still unknown, it is believed to be caused by mutations in the SRCAP gene. These mutations disrupt the normal functioning of the gene, leading to the characteristic features of the syndrome.
Due to the rarity of Floating-Harbor syndrome, it is important for affected individuals and their families to seek support from medical professionals and organizations specializing in rare genetic disorders. Early intervention and appropriate medical management can help individuals with Floating-Harbor syndrome lead fulfilling lives.
