What is the prevalence of Snyder-Robinson Syndrome?
How many people does Snyder-Robinson Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Snyder-Robinson Syndrome is a rare genetic disorder that primarily affects males. Due to its rarity, the prevalence of this syndrome is not well-established. However, it is estimated to occur in approximately 1 in every 1 million individuals. The condition is characterized by intellectual disability, skeletal abnormalities, and other associated features. Diagnosis can be challenging due to its rarity and overlapping symptoms with other conditions. Further research and awareness are needed to better understand the prevalence and impact of Snyder-Robinson Syndrome.
Snyder-Robinson Syndrome (SRS) is an extremely rare genetic disorder that predominantly affects males. Due to its rarity, the prevalence of SRS is not well-established. However, it is estimated to occur in approximately 1 in every 1 million individuals.
SRS is characterized by a range of symptoms including intellectual disability, delayed speech development, muscle weakness, osteoporosis, and distinctive facial features. The condition is caused by mutations in the Spermine Synthase (SMS) gene, which is responsible for the production of spermine, an essential polyamine.
As SRS is a genetic disorder, it is inherited in an X-linked recessive manner. This means that the condition primarily affects males, while females are typically carriers of the gene mutation. Due to the rarity of SRS, it often goes undiagnosed or misdiagnosed, leading to challenges in understanding its true prevalence.
Efforts are being made to increase awareness and understanding of SRS among healthcare professionals and researchers to improve diagnosis and support for individuals affected by this condition.
