Jada Bascom Foundation
All conditions

Inherited metabolic disorders

Autosomal recessive malignant osteopetrosis

Also called: ARO · IMO · malignant infantile osteopetrosis · osteopetrosis · marble bone disease · Infantile malignant osteopetrosis · Autosomal recessive osteopetrosis, severe infantile form

What a donor has to do with this

For some people with this condition, a transplant using blood stem cells from an unrelated donor is part of the treatment guidelines. When a transplant is the right route and no one in the family matches, that donor comes from a registry. Not everyone with this condition has a transplant, and many never need one.

This is our reading of published transplant guidelines for this condition, not a measurement of how many people need a donor. Where a source actually counted donors, the figure and the people it counted are shown further down. Where none did, we say so rather than estimate.

This page is not written out in full yet

We have not written this condition out in full yet. What is on this page — how a donor fits in, who it affects, and the sources behind that — is researched and linked, but the plain-English explanation of the condition itself is still to come.

What the evidence says

Who it affects
Typical onset/diagnosis: malignant autosomal-recessive osteopetrosis affects both sexes and is usually apparent in early infancy. Evidence: Europe/international EBMT synthesis (2024), which reports incidence near 1 per 100,000 births; no markedly enriched population was identified.
Treatments other than a transplant
Supportive transfusion, calcium management, infection care, and surgical/ophthalmic management — noncurative management — multiple regions — Does not restore osteoclast function in transplant-responsive genotypes.
If a transplant is used, the cells come from
bone marrow: used and preferred over peripheral blood in the cited matched-donor/PT-CY guidance; mobilized peripheral blood stem cells: used but ranked below bone marrow in the cited matched-donor/PT-CY guidance; umbilical cord blood: not recommended because of high graft-failure risk; dominance: bone marrow is the preferred graft source in the opened EBMT guidance
How often the donor was unrelated
Not reported. No source we could read states this for this condition, so we do not give a number. An estimate here would be a guess dressed as evidence.

Where this gets complicated

HCT is contraindicated or ineffective for osteoclast-extrinsic RANKL/TNFSF11 disease and may worsen primary neurodegenerative OSTM1 or some CLCN7 forms.; EBMT guidance does not recommend cord blood routinely because graft failure is high, despite published cord-blood experience.

Registries need people

Joining a registry is a cheek swab and a short health form. You are not matched to a condition — you are matched to a person, and it could be someone with any of the conditions in this library. You are contacted only if you turn out to be a possible match for someone, and you can ask questions and decline before anything else happens.

Find your registry

Related conditions

Others in inherited metabolic disorders. They are genuinely different diseases with different treatments — the group name is not a diagnosis.

Where this came from

Autosomal recessive malignant osteopetrosis — what a bone marrow donor has to do with it | Jada Bascom Foundation