| Chondrodysplasia Blomstrand | |
| Synonyms: | Blomstrand's lethal chondrodysplasia |
Chondrodysplasia Blomstrand is a rare genetic disorder characterized by a mutation of the parathyroid hormone receptor, leading to the absence of a functional PTHR1. This condition causes abnormal ossification of the endocrine system and intermembranous tissues,[1] along with accelerated skeletal maturation.[2]