thanatophoric dysplasia

Thanatophoric dysplasia is a rare genetic disorder that affects bone development, leading to extremely short arms and legs, a narrow chest, and a large head with characteristic skull features. It results from mutations in the FGFR3 gene, which disrupts normal bone growth. The condition is usually diagnosed before birth through ultrasound and is typically lethal shortly after birth due to severe respiratory problems caused by a very small chest cavity. It is not inherited but occurs due to new mutations, and most affected pregnancies do not result in survival beyond infancy.