Lethal osteosclerotic bone dysplasia

Definition

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

Also known as lethal osteosclerotic bone dysplasia, osteomalacia, sclerosing, with cerebral calcification, osteosclerotic bone dysplasia, lethal, RAINE syndrome — per MONDO

Also identified as

• MESH C535282 per MONDO
• MESH C564916 per MONDO
• OMIM 259660 per MONDO
• OMIM 259775 per MONDO
• Orphanet 1832 per MONDO
• UMLS C1850106 per MONDO