Catalog

Blomstrand lethal chondrodysplasia

No MMS code

Link to WHO Definition

Blomstrand lethal chondrodysplasia – http://id.who.int/icd/entity/1147450651

Blomstrand lethal chondrodysplasia is a rare severe skeletal dysplasia characterised by early lethality, advanced bone maturation and accelerated chondrocyte differentiation. Infants with BLC are typically born prematurely. They present with a severe dysmorphic syndrome characterised by extremely short limbs.