Chondrodysplasia Blomstrand type

Definition

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

Also known as BLC, Blomstrand chondrodysplasia, Blomstrand lethal chondrodysplasia, Blomstrand osteochondrodysplasia, Blomstrand type chondrodysplasia, BOCD, chondrodysplasia, Blomstrand type — per MONDO

Also identified as

• DOID 0060387 per MONDO
• MESH C537914 per MONDO
• NCIT C131420 per MONDO
• OMIM 215045 per MONDO
• Orphanet 50945 per MONDO
• UMLS C1859148 per MONDO