Contributor: Gordon K. Klintworth
Marble bone disease type II (autosomal dominant marble bone disease, autosomal dominant osteopetrosis, osteopetrosis type II, autosomal dominant Albers-Schönberg disease, Albers-Schönberg disease type II, osteosclerosis fragilis generalisata) is an inherited disorder of bone with an autosomal dominant mode of inheritance. The basic defect is defective resorption of immature bone. The main complications are dental abscesses and fragile bones. Fractures are common and lead to osteomyelitis. Excessive bone formation thickens the bone and narrows the bony foramina through which the optic nerve and other cranial nerves pass. This compresses the nerves and results in deafness, blindness and other cranial nerve palsies. An encroachment on the bone marrow results in anemia. Features of autosomal dominant Albers-Schönberg disease include macrocephaly, progressive deafness and blindness. Autosomal dominant Albers-Schönberg disease is not as severe as autosomal recessive Albers-Schönberg disease.