What is Thanatophoric Dysplasia?
- A form of dwarfism (skeletal dysplasia)
- Occurs in 1 in 20,000 to 50,000
- It is split into Type I and Type II
- Type I is more common
- Caused by mutation in the FGFR3 gene
Diagnosis of Thanatophoric Dysplasia
- Before birth:
- Ultrasound
- After birth by:
- Observation of common physical characteristics
What are common characteristics of Thanatophoric Dysplasia?
- Extremely short limbed dwarfism
- Folds of extra (reduntant) skin
- Narrow chest
- Short ribs
- Underdeveloped lungs
- Large head with prominent forehead
- Type I -
- curved thigh bone
- Flattened bones of the spine (platysponyly)
- Type II -
- Straight thigh bones
- Skull abnormality
*Please be aware, not all of the characteristics may be present*
Other information about Thanatophoric Dysplasia
- Intelligence could be affected
- Life expectancy is affected
- Affects males and females equally
Genetics of Thanatophoric Dysplasia
- Autosomal dominant pattern
Additional reading about Thanatophoric Dysplasia
- Genetics Home Reference - Thanatrophic Dysplasia
- eMedicine
- Orpha.Net
- Kids Health
- Understanding Dwarfism
*Little People UK are not responsible for external website*