Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
Also known as
Albers-Schoenberg disease; Albers-Schonberg disease; marble bone disease; marble bones; osteopetroses; osteopetrosis (disease); osteosclerosis fragilis
Includes 25 related subtypes ↓Hide subtypes ↑
- anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- autosomal dominant osteopetrosis
- autosomal dominant osteopetrosis 1
- autosomal dominant osteopetrosis 2
- autosomal recessive osteopetrosis
- autosomal recessive osteopetrosis 1
- autosomal recessive osteopetrosis 2
- autosomal recessive osteopetrosis 3
- autosomal recessive osteopetrosis 4
- autosomal recessive osteopetrosis 5
- autosomal recessive osteopetrosis 6
- autosomal recessive osteopetrosis 7
- autosomal recessive osteopetrosis 8
- dysosteosclerosis
- early-onset calcifying leukoencephalopathy-skeletal dysplasia
- infantile osteopetrosis with neuroaxonal dysplasia
- leukocyte adhesion deficiency 3
- melorheostosis
- osteomesopyknosis
- osteopathia striata with cranial sclerosis
- osteopetrosis, autosomal dominant 3
- osteopetrosis, autosomal dominant 4
- osteopetrosis, autosomal recessive 9
- osteosclerotic metaphyseal dysplasia
- pycnodysostosis
