What is the prevalence of Thanatophoric Dysplasia?
How many people does Thanatophoric Dysplasia affect? Does it have the same prevalence in men and women? And in the different countries?
Thanatophoric Dysplasia is a rare genetic disorder characterized by severe skeletal abnormalities. It is estimated to occur in approximately 1 in every 20,000 to 50,000 live births worldwide. This condition affects both males and females equally and is usually diagnosed prenatally through ultrasound or after birth based on physical features. Thanatophoric Dysplasia is caused by mutations in the FGFR3 gene and is associated with a high mortality rate, often resulting in stillbirth or death shortly after birth. Due to its rarity and severity, this disorder requires specialized medical care and support for affected individuals and their families.
Thanatophoric dysplasia is a rare genetic disorder characterized by severe skeletal abnormalities and is considered one of the most common lethal skeletal dysplasias. It affects approximately 1 in every 20,000 to 50,000 live births worldwide, making it a relatively rare condition.
The prevalence of Thanatophoric Dysplasia varies among different populations and ethnicities. It affects both males and females equally and has no known racial or ethnic predilection. However, certain genetic mutations associated with the disorder may be more prevalent in specific populations.
Due to its severe nature, Thanatophoric Dysplasia is often diagnosed prenatally during routine ultrasound examinations. The condition is typically lethal shortly after birth or during infancy, with very few affected individuals surviving beyond the first year of life.
Although rare, the impact of Thanatophoric Dysplasia on affected families can be devastating. Genetic counseling and prenatal testing are crucial for families with a history of the disorder or those at increased risk, providing them with information and support to make informed decisions about their reproductive options.
