autosomal dominant osteopetrosis 2

An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.

Signs and symptoms

• Mandibular osteomyelitis
• Abnormality of the vertebral endplates
• Visual loss
• Elevated serum acid phosphatase
• Facial paralysis
• Facial palsy
• Recurrent long bone fractures
• Osteopetrosis
• Recurrent fractures
• Hip osteoarthritis

Also known as: Albers-Schonberg osteopetrosis; OPTA2; autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II; osteopetrosis autosomal dominant type 2