Osteopetrosis subtype | | X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OLEDAID) | Intermediate osteopetrosis (IRO) | Autosomal dominant osteopetrosis (Alber’s Schönberg disease) |
Other manifestations | Pancytopenia, extramedullary hematopoiesis, hepatosplenomegaly, cranial nerve compression (II, VII, and VIII), hydrocephalus, and hypocalcemia | As for classic ARO, but primary neurodegeneration, including retinal atrophy | Renal tubular acidosis, developmental delay, intracranial calcification, cranial nerve compression, and rare bone marrow impairement | Anhidrotic ectodermal dysplasia, lymphedema, and immunodeficiency resulting in overwhelming infection | Anaemia and extramedullary hematopoiesis, occasional optic nerve compression | Moderate haematological failure, cranial nerve compression |