Thanatophoric dysplasia
ORPHA:2655· ICD-10 Q77.1
Definition
A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal