Conditions / Genetic
autosomal recessive osteopetrosis 2
info · Genetic
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
Signs and symptoms
- Anemia
- Decreased osteoclast count
- Hepatosplenomegaly
- Recurrent fractures
- Diaphyseal sclerosis
- Cranial nerve compression
- Osteopetrosis
- Hydrocephalus
- Genu valgum
- Persistence of primary teeth
Also known as: OPTB2; mild autosomal recessive form osteopetrosis; osteoclast-poor osteopetrosis