| Chondrodysplasia Blomstrand | |
|---|---|
| Other names | Blomstrand's lethal chondrodysplasia |
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| This condition is inherited in an autosomal recessive manner. | |
Chondrodysplasia Blomstrand is a rare disorder caused by mutation of the parathyroid hormone receptor resulting in the absence of a functioning PTHR1. It results in ossification of the endocrine system and intermembraneous tissues and advanced skeletal maturation.