Thanatophoric Dysplasia

What does the name mean?

“Thanatophoric” is a Greek term meaning “death-bringing.” There are two distinct forms of this dysplasia: Type 1 and Type 2.

How common is thanatophoric dysplasia?

Thanatophoric Dwarfism is one of the most common lethal skeletal dysplasias. Its incidence is approximately 2 to 5 in 100,000 births (2).

Is thanatophoric dysplasia inherited?

Thanatophoric dysplasia follows an autosomal dominant inheritance pattern. All cases are a result of spontaneous gene mutations (1).

What causes thanatophoric dysplasia?

A mutation in the fibroblast growth factor receptor-3 (FGFR3) gene is responsible for causing Thanatophoric Dysplasia (1).

• What are the physical characteristics of Thanatophoric Dysplasia?
• How is the diagnosis made?
• What are the associated medical problems?
• Problems elsewhere in the body
• References