Thanatophoric Dysplasia

Thanatophoric Dysplasia

Thanatophoric dysplasia is a severe skeletal disorder characterised by extremely short limbs, narrow chest, and distinctive facial features. It results from mutations in the FGFR3 gene. Most affected infants are stillborn or die shortly after birth due to respiratory failure. Thanatophoric dysplasia occurs sporadically, without a family history.