autosomal dominant osteopetrosis 1

An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.

Signs and symptoms

• Thickened calvaria
• Abnormality of the vertebral column
• Osteopetrosis
• Conductive hearing impairment
• Abnormal pelvic girdle bone morphology
• Generalized osteosclerosis
• Thickened cortex of long bones
• Calvarial osteosclerosis
• Torus palatinus
• Headache

Also known as: OPTA1; autosomal dominant osteopetrosis type 1