gnathodiaphyseal dysplasia

An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosom

An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.

Signs and symptoms

• Osteopenia
• Diaphyseal cortical sclerosis
• Bowing of the long bones
• Increased susceptibility to fractures
• Osteomyelitis

Also known as: GDD; Levin syndrome 2; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions; osteogenesis imperfecta, Levin type